Ocular Syndromes & Systemic Diseases Frederick Hampton Roy
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Syndromes A1

 
1. A-ESOTROPIA SYNDROME
 
General
Esotropia greater looking up by 15 prism diopters than looking down; an overaction of superior oblique muscles or underaction of inferior rectus muscles; fusion may be obtained by chin elevation; mongoloid (upward) slant of lid fissures; may be accommodative, nonaccommodative or paralytic esotropia components.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Recess the medial rectus bilaterally with a half tendon upshift. If unilateral surgery recess medial rectus with upshift and resect the lateral rectus (LR) with a half tendon downshift. With significant oblique overaction—recess the medial rectus bilaterally or recess the medial rectus and resect the LR unilaterally for esotropia in primary position weaken the superior oblique bilaterally if 25 diopters from up to down.
 
Bibliography
  1. Beyer-Machule C, von Noorden GK. Atlas of Ophthalmic Surgery. Thieme;  New York:  1984.
  1. Hwang J, Wright KW. Strabismus syndromes. In: Wright KW (Ed). Pediatric Ophthalmology and Strabismus. Mosby;  St. Louis:  1995. p. 223.
  1. Roy FH. Practical Management of Eye Problems: Glaucoma, Strabismus, Visual Fields. Lea & Febiger;  Philadelphia:  1975. pp. 32–134.
 
2. A-EXOTROPIA SYNDROME
 
General
Exotropia greater looking down by 15 prism diopters than looking up; mongoloid (upward) slant of lid fissures; alternating sursumduction and associated vertical divergence; overaction of superior oblique muscles or underaction of inferior oblique or inferior rectus muscles; fusion obtained by chin depression.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Recess the lateral rectus with downshift. If unilateral surgery recess the lateral rectus with downshift and resect the medial rectus with upshift. With oblique dysfunction—recess the rectus bilateral and weaken the superior oblique bilaterally.
 
Bibliography
  1. Hardesty HH. Superior oblique tenotomy. Arch Ophthalmol. 1972;88:181–4.
  1. Hwang J, Wright KW. Strabismus syndromes. In: Wright KW (Ed). Pediatric Ophthalmology and Strabismus. Mosby;  St. Louis:  1995. p. 223.
  1. Roy FH. Practical Management of Eye Problems: Glaucoma, Strabismus, Visual Fields. Lea & Febiger;  Philadelphia:  1975. pp. 144–5.
2
 
3. A-PATTERN STRABISMUS
 
General
Visual axis greater in upgaze than downgaze by at least 15 prism diopters.
 
Clinical
None
 
Ocular
A-esotropia; A-exotropia; amblyopia.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
A-pattern esotropia without oblique dysfunction—recess medial rectus bilateral with upshift or recess the medial rectus with upshift and resect lateral rectus with downshift in one eye. A-pattern esotropia with superior oblique overaction—recess the medial rectus bilaterally or recess medial rectus and resect lateral rectus unilaterally and weaken superior oblique by tenectomy. A-pattern exotropia without oblique dysfunction—recess the lateral rectus bilaterally with downshift or unilaterally recess the lateral rectus with a downshift and resect the medial rectus with a upshift. A-pattern exotropia with superior oblique overaction—recess the lateral rectus bilaterally or unilaterally recess the lateral rectus and resect the medial rectus and weaken the superior oblique bilaterally by tenectomy.
 
Additional Resource
  1. Plotnik JL (2011). A-Pattern Esotropia and Exotropia. [online] Available from http://www.emedicine.com/oph/TOPIC560.HTM [Accessed April, 2012].
 
4. AARSKOG-SCOTT SYNDROME (FACIOGENITAL DYSPLASIA)
 
General
Sex-linked; characterized by ocular hypertelorism, anteverted nostrils, broad upper lip and saddle-bag scrotum.
 
Ocular
Ptosis; hypertelorism.
 
Clinical
Hyperextensibility of fingers; genu recurvatum; flat feet; hypermobility in cervical spine with neurologic deficit; cleft lip and palate; anteverted nostrils; broad upper lip; abnormal penoscrotal relations; “saddle-bag scrotum”.
 
Laboratory
For full and detailed physical examination, a radiologic evaluation is essential. Standard posteroanterior and lateral views are used for the initial evaluation.
 
Treatment
Primary goal is to prevent the development of a severe deformity rather than treating the current deformity.3
 
Bibliography
  1. Bowle E, Tyrkus M, Lipman S, et al. Aarskog syndrome: full male and female expression associated with an X-autosome translocation. Am J Med Genet. 1984;17:595–602.
  1. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edition. The Johns Hopkins University Press;  Baltimore:  1998.
  1. Scott CI. Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth Defects Orig Artic Ser. 1971;7:240–6.
 
5. AARSKOG SYNDROME (FACIAL-DIGITAL-GENITAL SYNDROME)
 
General
X-linked recessive; males fully affected; females exhibit partial features; normal birth weight and length.
 
Ocular
Telecanthus; hypertelorism; unilateral or bilateral blepharoptosis; strabismus; hyperopic astigmatism; large cornea.
 
Clinical
Short stature; triangular facies; deformity of hands and feet; anomalies of external genitalia; inguinal hernia; protruding umbilicus; abnormal cervical vertebrae; cryptorchidism.
 
Laboratory
For full and detailed physical examination, a radiologic evaluation is essential. Standard posteroanterior and lateral views are used for the initial evaluation.
 
Treatment
Primary goal is to prevent the development of a severe deformity rather than treating the current deformity.
 
Bibliography
  1. Kirkham TH, Milot J, Berman P. Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol. 1975;79:441–5.
 
6. ABDOMINAL TYPHUS (ENTERIC FEVER; TYPHOID FEVER)
 
General
Causative agent is Salmonella typhi.
 
Ocular
Conjunctivitis; chemosis; corneal ulcer; tenonitis; paralysis of extraocular muscles; endophthalmitis; panophthalmitis; optic neuritis; retinal detachment; central scotoma; central retinal artery emboli; iritis with or without hypopyon; choroiditis; retinal hemorrhages; bilateral optic neuritis; abnormal ocular motility (likely secondary to thrombotic infarcts affecting the ocular motor nerve nuclei, fascicles, brainstem or cerebral hemispheres).
 
Clinical
Fever; headache; bradycardia; splenomegaly; maculopapular rash; leukopenia; encephalitis. Salmonella may produce an illness characterized 4by fever and bacteremia without any other manifestations of enterocolitis or enteric fever, which is particularly common in patients with acquired immunodeficiency syndrome (AIDS).
 
Laboratory
Gram-negative bacillis isolation from blood culture (50–70% of cases). Stool culture positive less frequent.
 
Treatment
Early detection, antibiotic therapy, adequate fluids, electrolytes, and nutrition reduce the rate of complications and reduce the case-fatality rate.
 
Additional Resource
  1. Brusch JL (2011). Typhoid Fever. [online] Available from http://www.emedicine.com/med/TOPIC2331.HTM [Accessed April, 2012].
 
7. ABDUCENS PARALYSIS (SIXTH NERVE)
 
General
Unilateral or bilateral, multiple etiologies because of long course of sixth nerve.
 
Clinical
Childhood neoplasm, raised intracranial pressure, hypertension, diabetes.
 
Ocular
Inability to turn the eye laterally.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Tape or base-out prism on one eyeglass may be useful, botulinum toxin type A into the antagonist medial recturs muscle, if no improvement after 6–12 months—recess/resect of medial and lateral rectus.
 
Additional Resource
  1. Ehrenhaus MP (2012). Abducens Nerve Palsy. [online] Available from http://www.emedicine.com/oph/TOPIC158.HTM [Accessed April, 2012].
 
8. ABERFELD SYNDROME (CONGENITAL BLEPHAROPHIMOSIS ASSOCIATED WITH GENERALIZED MYOPATHY SYNDROME; OCULAR AND FACIAL ABNORMALITIES SYNDROME; SCHWARTZ-JAMPEL SYNDROME)
 
General
Etiology not known; autosomal recessive inheritance, although there are reports of dominant inheritance; progressive disorder.
 
Ocular
Blepharophimosis; exotropia; myopia; congenital cataracts; microcornea.
 
Clinical
Myopathy; bone deformities; arachnodactyly; dwarfism; hypoplastic facial bones; hypertrichosis; kyphoscoliosis.
 
Laboratory
Physicians might consider referring suspected cases to genetic clinics that have affiliations with 5groups actively research so that genetic studies can be performed. Muscle biopsy findings are consistent with a myopathy.
 
Treatment
The goal is to reduce the abnormal muscle activity that causes stiffness. Botulinum toxin therapy may be considered for the treatment of blepharospasm. However, if ptosis is present, this is contraindicated. Some medications that have been found useful in myotonic disorders such as the anticonvulsants and the antiarrhythmics.
 
Additional Resource
  1. Ault J (2012). Schwartz-Jampel Syndrome. [online] Available from http://www.emedicine.com/neuro/TOPIC337.HTM [Accessed April, 2012].
 
9. ABSENCE OF FOVEAL REFLEX
The absence of foveal reflex is caused by drugs, including amodiaquine, chloroquine, diiodohydroxyquin, hydroxychloroquine, iodochlorhydroxyquin or quinine.
 
Bibliography
  1. Fraunfelder FT. Drug-Induced Ocular Side Effects and Drug Interactions. Lea & Febiger;  Philadelphia:  1982.
 
10. ACANTHAMOEBA
 
General
Caused by Acanthamoeba polyphaga and Acanthamoeba cartel (see Herpes Simplex Masquerade Syndrome); all types of contact lenses have been associated with acanthamoeba keratitis, particularly daily-wear soft contact lenses.
 
Ocular
Hypopyon; uveitis; conjunctivitis and chemosis; keratitis; pannus; corneal ring abscess; papillitis; vitreitis; retinal perivasculitis; secondary glaucoma; postkeratoplasty acanthamoeba keratitis may present as an infectious crystalline keratopathy in the periphery of the graft.
 
Clinical
Meningoencephalitis; meningitis; hemorrhagic encephalitis.
 
Laboratory
Polygonal double-walled cysts, under bright-field or phase-contrast microscopy or stained with hematoxylin and eosin, Gram, Giemsa or celluflor white.
 
Treatment
Medical therapy for Acanthamoeba infection is not well established. Topical antimicrobial agents that achieve high concentrations at the site of the infection can be considered. Treatment of keratitis consists of early diagnosis and aggressive surgical and medical therapies.
 
Additional Resources
  1. Crum-Cianflone NF (2011). Acanthamoeba. [online] Available from http://www.emedicine.com/med/TOPIC10.HTM [Accessed April, 2012].
  1. Wang JC (2010). Ophthalmologic Manifestations of Herpes Simplex Keratitis. [online] Available from http://www.emedicine.com/oph/TOPIC100.HTM [Accessed April, 2012].6
 
11. ACANTHOSIS NIGRICANS
 
General
Rare skin disease of unknown etiology; occurs at any age; equal frequency in males and females; thickening and hyperpigmentation of the skin of the entire body, especially in flexural areas; autosomal dominant inheritance.
 
Ocular
Conjunctivitis; pigmentation of palpebral conjunctiva; tumors on lids and lid margins; madarosis; trichiasis.
 
Clinical
Hyperkeratotic lesions on face, neck, oral mucosa, axillae, groin, antecubital fossae and umbilicus.
 
Laboratory
Basic workup for underlying malignancy and screen for insulin resistance.
 
Treatment
The goal of therapy is to correct the underlying disease process. Treatment of the lesions of acanthosis nigricans (AN) is for cosmetic reasons only.
 
Additional Resource
  1. Miller JH (2010). Acanthosis Nigricans. [online] Available from http://www.emedicine.com/derm/TOPIC1.HTM [Accessed April, 2012].
 
12. ACCOMMODATIVE ESOTROPIA
 
General
Hereditary, onset between the ages of 6 months and 5 years.
 
Clinical
None
 
Ocular
Uncorrected hyperopia with insufficient fusional divergence. The hyperopia averages 5 diopters. The esotropia is equal distance and near.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Amblyopia therapy: Spectacle correction—full cycloplegic refraction if esotropia is at same distance and near, greater near than distant esotropia—bifocals up to +3.50 diopters set high at mid-pupil, gradually reduce the power to maintain fusion, contact lens if patient is capable, echothiopate iodine use to reduce the use of spectacles and if residual esotropia after full correction consider strabismus surgery.
 
Additional Resource
  1. Noyes C (2012). Accommodative Esotropia. [online] Available from http://www.emedicine.com/oph/TOPIC554.HTM [Accessed April, 2012].7
 
13. ACCOMMODATIVE INSUFFICIENCY (ACCOMMODATIVE EFFORT SYNDROME)
 
General
Male or female, 10–35 years of age.
 
Ocular
Asthenopia with near vision appearing within a few minutes after reading, sewing or observing a near object; increased amplitude of accommodative adduction; abnormal relaxation of accommodation induced by relative divergence at close distances; latent convergence insufficiency; may result secondary to ciliary dysfunction associated with Adie's pupil.
 
Clinical
It may be secondary to a systemic disorder such as Parkinson disease or oral lithium.
 
Laboratory
Accommodation testing are the basic tests that used to help diagnose this condition.
 
Treatment
Convergence exercises including orthoptics, vision therapy and/or base-in prisms are the mainstays of treatment of convergence insufficiency.
 
Additional Resource
  1. Bartiss MJ (2011). Convergence Insufficiency. [online] Available from http://www.emedicine.com/oph/TOPIC553.HTM [Accessed April, 2012].
 
14. ACCOMMODATIVE SPASM (SPASM OF THE NEAR REFLEX)
 
General
Episodic excessive contraction of the ciliary muscle.
 
Clinical
Posterior fossa tumor, central nervous system (CNS) infection, head trauma, cerebrovascular injuries.
 
Ocular
Diplopia, esotropia, accommodation, convergence, miosis.
 
Laboratory
Computed tomography (CT) and magnetic resonance imaging (MRI).
 
Treatment
Cycloplegics to break the accommodative component, refractive correction for distance with reading addition.
 
Bibliography
  1. Roy FH, Fraunfelder FW, Fraunfelder FT. Roy and Fraunfelder's Current Ocular Therapy, 6th edition. WB Saunders;  Philadelphia:  2008.8
 
15. ACERULOPLASMINEMIA
 
General
Autosomal recessive, adult-onset.
 
Ocular
Maculopathy which resembles aging macular degeneration.
 
Clinical
Associated with increased levels of copper in the retina.
 
Laboratory
Increased urinary copper level, greater than 100 mcg/24 hours (normal, 10–80 mcg/24 h).
 
Treatment
A low copper diet is recommended. Foods that are high in copper content include shellfish, liver, mushrooms, broccoli, chocolate and nuts.
 
Bibliography
  1. Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology. 2003;23:345–50.
 
16. ACHARD SYNDROME
 
General
All features of Marfan syndrome, with the addition of dysostosis mandibulofacialis; arachnodactyly; receding lower jaw; joint laxity limited to the hands and feet; differs from Marfan syndrome in that the skull is broad and brachycephalic with small mandible.
 
Ocular
Myopia; lens dislocation; spherophakia.
 
Clinical
Mandibulofacial dysostosis; skeletal anomalies; arachnodactyly; high-arched palate; heart disease.
 
Laboratory
Genetic testing, molecular studies.
 
Treatment
Dislocated lens can be treated with careful phacoemulsification, topical steroids to control ocular inflammation.
 
Bibliography
  1. Achard D. Arachnodactylie. Bull Mem Soc Med Hop Paris. 1902;19:834.
  1. Jackson LG. Genetic principles for the ophthalmologist. Trans Pa Acad Ophthalmol Otolaryngol. 1974;27:20–8.
  1. Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd edition. JB Lippincott;  Philadelphia:  1981.
  1. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edition. The Johns Hopkins University Press;  Baltimore:  1998.
  1. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine. (2007). Online Mendelian Inheritance in Man (OMIM). [online] Available from http://www.ncbi.nlm.nih.gov/omim [Accessed April, 2012].9
 
17. ACHONDROPLASIA
 
General
Dwarfism; etiology unknown; occurs in both sexes; inheritance is autosomal dominant with almost complete penetrance; characterized by rhizomelic dwarfism (reduction most marked in the proximal limbs); mid-face hypoplasia; exaggerated lumbar lordosis; limitation of hip and elbow expansion; location of achondroplastic gene reported to be in the short arm of chromosome 1.
 
Ocular
Strabismus; optic atrophy; hypermetropia.
 
Clinical
Osseous impingement upon cranial nerves; rhizomelic short stature; facial features include frontal bossing, depressed nasal bridge, relative mandibular prognathism; connective tissue dysplasia; hypotonic in infancy; paraplegia may develop in the second or third decade.
 
Laboratory
Plasma can be analyzed for the fibroblast growth factor receptor 3 (FGFR3) mutation in the mother when a short-limb skeletal dysplasia is diagnosed prenatally on ultrasound. This can be confirmatory for achondroplasia.
 
Treatment
Growth hormone is currently being used to augment the height of patients with achondroplasia. Orthopedic physician will need to be consulted concerning problems related to the spine.
 
Additional Resource
  1. Parikh S (2012). Achondroplasia. [online] Available from http://www.emedicine.com [Accessed April, 2012].
 
18. ACHOO SYNDROME (AUTOSOMAL DOMINANT COMPELLING HELIO-OPHTHALMIC OUTBURST SYNDROME; PEROUTKA SNEEZE; PHOTIC SNEEZE REFLEX; SNEEZING FROM LIGHT EXPOSURE)
 
General
Autosomal dominant; sneezing in response to bright light, especially sunlight; association between photic sneeze and nephropathic cystinosis has been reported.
 
Ocular
Photic sneeze reflex by sudden exposure of dark-adapted subject to bright light.
 
Clinical
Successive sneezing, as many as 43 in a row.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
None
 
Bibliography
  1. Collie WR, Pagon RA, Hall JG, et al. ACHOO syndrome. Birth Defects Orig Artic Ser. 1978;14:361–3.
  1. Katz B, Melles RB, Swenson MR, et al. Photic sneeze reflex in nephropathic cystinosis. Br J Ophthalmol. 1990;74:706–8.
  1. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edition. The Johns Hopkins University Press;  Baltimore:  1998.
  1. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine. (2007). Online Mendelian Inheritance in Man (OMIM). [online] Available from http://www.ncbi.nlm.nih.gov/omim [Accessed April, 2012].10
 
19. ACID BURNS OF THE EYE
 
General
Acid injuries of the eyes are characterized by protein coagulation and precipitation with the anion. Direct tissue damage produced by the hydrogen ion.
 
Clinical
None
 
Ocular
Chemosis, corneal epithelial defects, limbal blanching, corneal clouding, photophobia, corneal neovascularization, symblepharon formation.
 
Laboratory
Diagnosis is made from clinical history and findings.
 
Treatment
Immediate irrigation. Topical antibiotics for bacterial infection if needed. Contact lenses aid in re-epithelialization of the cornea.
 
Bibliography
  1. Roy FH, Fraunfelder FW, Fraunfelder FT. Roy and Fraunfelder's Current Ocular Therapy, 6th edition. WB Saunders;  Philadelphia:  2008.
 
20. ACINETOBACTER (ACINETOBACTER IWOFFI; MIMA POLYMORPHA)
 
General
Gram-negative pleomorphic bacillus Mima; generally occurs in patient with lowered resistance.
 
Ocular
Conjunctivitis and chemosis; corneal ulcer; blepharitis; iris prolapse; endophthalmitis.
 
Clinical
Meningitis; pneumonitis; endocarditis; urethritis; vaginitis; arthritis; dermatitis; intracranial abscess; subdural empyema.
 
Laboratory
Culture of the appropriate body fluid that is properly transported, plated and incubated grows A. baumannii.
 
Treatment
An infectious disease specialist should be consulted to differentiate colonization from infection and for antibiotic recommendations. Fluoroquinolone is the treatment of choice.
 
Additional Resource
  1. Cunha BA (2011). Acinetobacter. [online] Available from http://www.emedicine.com/med/TOPIC3456.HTM [Accessed April, 2012].
 
21. ACKERMAN SYNDROME
 
General
Autosomal recessive; characterized by pyramidal molar roots.
 
Ocular
Juvenile glaucoma.11
 
Clinical
Unusual upper lip and dental roots; pyramidal molar roots.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Congenital glaucoma: Primary congenital glaucoma almost always is managed surgically, both goniotomy and trabeculectomy may be useful. When multiple goniotomies and/or trabeculectomies fail, the surgeon usually resorts to a filtering procedure.
 
Bibliography
  1. Antine BE, Brown FM, Arisco MJ. Fibroma of the cornea. Arch Ophthalmol. 1974;91:278–80.
  1. Kenyon KR. Mesenchymal dysgenesis in Peter's anomaly, sclerocornea and congenital endothelial dystrophy. Exp Eye Res. 1975;21:125–42.
 
22. ACL SYNDROME (ACROMEGALOID; CORNEAL LEUKOMA SYNDROME; CUTIS VERTICIS GYRATA)
 
General
Autosomal dominant; rare; three features include: (1) cutis verticis, (2) associated with acromegaly and (3) corneal leukoma; onset by age 1 year.
 
Ocular
Bilateral corneal leukoma; keratitis.
 
Clinical
Unusually tall; large hands, feet and chin; skin of hands very soft; skin of scalp lies in folds; frontal bosses; ear calcification; pituitary tumors; abnormal dermal ridge patterns; enlargement of supraorbital arch of frontal bone.
 
Laboratory
Anticardiolipin (aCL) antibodies react primarily to membrane phospholipids, such as cardiolipin and phosphatidylserine. Of the three known isotypes of aCL [i.e. immunoglobulin G (IgG), IgM, IgA], IgG correlates most strongly with thrombotic events.
 
Treatment
Ocular—patients with bilateral and visually disabling corneal opacity, penetrating keratoplasty (PK) is recommended.
 
Bibliography
  1. Antine BE, Brown FM, Arisco MJ. Fibroma of the cornea. Report of a case associated with congenital generalized fibromatosis. Arch Ophthalmol. 1974; 91:278–80.
 
23. ACNE ROSACEA (ACNE ERYTHEMATOSA; OCULAR ROSACEA)
 
General
Etiology unknown; usually occurs in women 30–50 years of age; pathogenetic mechanism remains unclear.
 
Ocular
Conjunctivitis; corneal neovascularization (wedge-shaped); keratitis; meibomianitis; blepharitis; recurrent chalazion; conjunctival hyperemia; superficial punctate keratopathy; corneal vascularization, thinning, perforation and scarring; episcleritis; scleritis; iritis; nodular conjunctivitis.
 
Clinical
Symmetrical erythema; papules; pustules; telangiectasia; sebaceous gland hypertrophy of the forehead, malar eminences and nose.12
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Systemic antibiotics are useful in most cases.
 
Additional Resource
  1. Banasikowska AK (2011). Rosacea. [online] Available from http://www.emedicine.com/derm/TOPIC377.HTM [Accessed April, 2012].
 
24. ACOSTA SYNDROME (MOUNTAIN CLIMBER SYNDROME; MOUNTAIN SICKNESS; MONGE SYNDROME; SOROCHE SYNDROME)
 
General
Cause is cerebral hypoxia at high altitudes; Monge syndrome is the chronic form of mountain sickness.
 
Ocular
Acute blurred vision; difficulties in color discrimination; impaired light adaptation; retinal hemorrhage; chronic lid edema; bluish scleral injection; decreased visual acuity.
 
Clinical
Restlessness and irritability; headaches; impaired judgment at approximately 15,000 feet; confusion, cyanosis, muscular incoordination and possible loss of consciousness at approximately 18,000–20,000 feet; exertional dyspnea; epistaxis; gum bleeding; hemoptysis; anorexia; nausea; vomiting; tinnitus; cough; loss of libido; paresthesian extremities; coma; clubbing of fingers; hepatosplenomegaly.
 
Laboratory
Computed tomography (CT) is useful in patients with focal neurologic findings or in atypical cases of suspected high altitude disease.
 
Treatment
The symptoms improve dramatically with descent, and by the time a patient reaches the emergency department, further treatment is rarely indicated. Oxygen 4 L/min or to keep SaO2 above 90% should be used in patients who continue to be acutely ill. Dexamethasone should be continued in symptomatic patients.
 
Additional Resource
  1. Kale R (2012). Altitude-Related Disorders. [online] Available from http://www.emedicine.com/med/TOPIC3225.HTM [Accessed April, 2012].
 
25. ACQUIRED EXOTROPIA
 
General
Exodeviation characterized by visual axes that form a divergent angle. Intermittent exotropia, sensory exotropia and exotropia with neurologic causes are all types of acquired exotropia. More common in Middle East, Africa and Asia.
 
Clinical
Neurological issues.
 
Ocular
Exophoria, intermittent exotropia, diplopia, bitemporal suppression, asthenopia, and closing of one eye in bright light, amblyopia.
 
Laboratory
Diagnosis is made by clinical findings.13
 
Treatment
Nonsurgical treatment involves correction of refractive error occlusion therapy for amblyopia, orthoptics and botulinum toxin injections. Treatment of neurologic defect is also important. Surgery is only considered when the patient has poor control of the deviation, diplopia and severe asthenopia.
 
Additional Resource
  1. Thacker N (2012). Acquired Exotropia. [online] Available from http://www.emedicine.medscape.com/article/1199004-overview [Accessed April, 2012].
 
26. ACQUIRED IMMUNODEFICIENCY SYNDROME (ACQUIRED CELLULAR IMMUNODEFICIENCY; ACQUIRED IMMUNODEFICIENCY; AIDS)
 
General
Acquired breakdown of the immune system followed by disease that takes advantage of the body's collapsed defenses; acquired by shared drug needles or sexual intercourse; occurs most frequently in homosexually active men (75%), intravenous drug abusers (13%) and Haitian immigrants (6%).
 
Ocular
Retinal cotton-wool spots; cytomegalovirus (CMV) retinitis; retinal periphlebitis; conjunctival Kaposi sarcoma; necrotizing retinitis; retinal hemorrhages; conjunctivitis sicca; orbital Burkitt lymphoma; peripheral retinochoroiditis; vitreitis; fungal corneal ulcer; hypopyon; acute glaucoma; III nerve palsy; anterior uveitis; atypical retinitis; orbital pseudotumor; herpes zoster ophthalmicus; herpes simplex keratitis; bacterial keratitis; molluscum contagiosum; CMV retinitis; toxoplasma retinitis; acute retinal necrosis; human immunodeficiency virus (HIV) retinitis; syphilitic retinitis; pneumocystis carinii choroiditis; fungal and bacterial endophthalmitis; fungal choroiditis; conjunctival microvasculopathy; keratitis sicca; subconjunctival hemorrhage.
 
Clinical
Because of lowered immunity, one-third of individuals develop Kaposi sarcoma; pneumonia caused by Pneumocystis carinii; death.
 
Laboratory
Enzyme-linked immunosorbent assay (ELISA) test is used for screening while other tests are used to evaluate false-positive and false-negative test results.
 
Treatment
Medical consultations are required for systemic treatment. The treatment of CMV retinitis can include drugs such as ganciclovir, valganciclovir, fomivirsen, foscarnet and cidofovir. All of these drugs have specific adverse effects and complicate the decision to use for treatment.
 
Additional Resources
  1. Dubin J (2011). Rapid Testing for HIV. [online] Available from http://www.emedicine.com/emerg/TOPIC253.HTM [Accessed April, 2012].
  1. Copeland R (2011). Ocular Manifestations of HIV Infection. [online] Available from http://www.emedicine.com/oph/TOPIC417.HTM [Accessed April, 2012].14
 
27. ACQUIRED LUES (ACQUIRED SYPHILIS; LUES VENEREA; MALUM VENEREUM; SYPHILIS)
 
General
Causative agent, Treponema pallidum, usually transmitted sexually.
 
Ocular
Conjunctival chancroid; conjunctivitis; keratitis; blepharitis; ptosis; iris atrophy; hippus; dacryocystitis; optic nerve atrophy; optic neuritis; periostitis; episcleritis; scleritis; nystagmus; uveitis; vitreous hemorrhages; paralysis of sixth nerve; papilledema; retinal hemorrhages; retinitis proliferans; oculogyric crisis; neuroretinitis; papilledema (associated with aseptic meningitis); diffuse or multifocal chorioretinitis; vertical supranuclear gaze palsy; Benedikt syndrome.
 
Clinical
Primary lesion associated with regional lymphadenopathy; secondary bacteremic stage associated with generalized mucocutaneous lesions; tertiary stage characterized by destructive mucocutaneous, musculoskeletal, or parenchymal lesions, aortitis, or central nervous system disease; syphilis and HIV infection often coexist in the same patient who experiences a higher incidence and greater severity of neurologic and ocular manifestations; a significant percentage of patients infected with HIV-I and T. pallidum become seronegative to syphilis testing.
 
Laboratory
Serologic nontreponemal tests include Venereal Disease Research Laboratory (VDRL) and rapid plasma reagin (RPR).
 
Treatment
The goals are to reduce morbidity and to prevent complications. Penicillin is the antibiotic of choice for treating syphilis. Ocular syphilis should be treated the same as patients with neurosyphilis.
 
Additional Resources
  1. Majmudar PA (2011). Interstitial Keratitis Overview of Interstitial Keratitis. [online] Available from http://www.emedicine.com/oph/TOPIC453.HTM [Accessed April, 2012].
  1. Euerle B (2012). Syphilis. [online] Available from http://www.emedicine.com/med/TOPIC2224.HTM [Accessed April, 2012].
 
28. ACQUIRED NONACCOMMODATIVE ESOTROPIA
 
General
Convergent deviation with onset after age of 6 months, unaffected by accommodation.
 
Clinical
None
 
Ocular
Esotropia same in all fields of gaze, amblyopia.
 
Laboratory
Diagnosis is made by clinical findings.15
 
Treatment
Amblyopia therapy, eyeglasses if significant refractive error, orthoptics, unilateral surgery—recess medial rectus and resect lateral rectus or bilateral—recess both medial rectus.
 
Additional Resource
  1. Pascotto A (2010). Acquired Esotropia. [online] Available from http://www.emedicine.com/oph/TOPIC327.HTM [Accessed April, 2012].
 
29. ACRODERMATITIS CHRONICA ATROPHICANS
 
General
Rare familial skin disorder; autosomal recessive; both sexes equally affected; occurs in infants; not present at birth but develops during the first few weeks; zinc deficiency; there are reports of improvement following treatment with zinc suggesting an abnormality in the zinc-binding factor.
 
Ocular
Scarring of the conjunctiva; recurrent iridocyclitis; keratomalacia; cataracts; photophobia; blepharitis; punctal stenosis; corneal opacification.
 
Clinical
Vesiculobullous eruption around body orifices, skin of knees, elbows and paronychial areas; complete alopecia; erythematous psoriasiform plaques.
 
Laboratory
Diagnose is based on evaluation of the history, including epidemiologic data, signs, and symptoms of early and late infection; on a detailed physical examination; and on the specific serologic tests results and histopathologic picture of skin biopsy specimens.
 
Treatment
The goals of pharmacotherapy are to eradicate the infection, to reduce morbidity and to prevent complications with the use of antibiotics.
 
Additional Resource
  1. Chodynicka B (2011). Acrodermatitis Chronica Atrophicans. [online] Available from http://www.emedicine.com/derm/TOPIC4.HTM [Accessed April, 2012].
 
30. ACROPACHY (HYPERTROPHIC PULMONARY OSTEOARTHROPATHY)
 
General
Three separate components: (1) clubbing of fingers, (2) periosteal proliferation of distal ends of long bones and (3) arthritis; symptoms disappear with control of disease.
 
Ocular
Exophthalmos
 
Clinical
Finger edema; fibrous overgrowth to fingertips; nail deformity; elevated hormone levels; periosteal bone changes which affect distal radius, ulna, tibia, fibula, metacarpals and phalanges.
 
Laboratory
Because clubbing typically is secondary to an underlying pathological process, perform 16pertinent laboratory studies for primary medical disorders that are suggested clinically.
 
Treatment
Clubbing is a clinical sign of many pathological processes; therefore, consultation with specialists may be necessary to diagnose the underlying disease.
 
Additional Resource
  1. Schwartz RA (2012). Clubbing of the Nails. [online] Available from http://www.emedicine.com/derm/TOPIC780.HTM [Accessed April, 2012].
 
31. ACRORENO-OCULAR SYNDROME
 
General
Autosomal dominant; Duane syndrome with radial defects.
 
Ocular
Complete coloboma; coloboma of optic nerve; ptosis and Duane anomaly.
 
Clinical
Renal anomalies; hypoplasia of distal part of thumb with lack of motion at phalangeal joint; renal ectopia without fusion; bladder diverticula; malrotation of both kidneys; absence of kidney; clubhand or absence of thumb.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Ptosis: If visual acuity is affected most cases require surgical correction, and there are several procedures that may be used including levator resection, repair or advancement and Fasanella-Servat.
 
Bibliography
  1. Halal F, Homsy M, Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet. 1984;17:753–62.
  1. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edition. The Johns Hopkins University Press;  Baltimore:  1998.
  1. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine. (2007). Online Mendelian Inheritance in Man (OMIM). [online] Available from http://www.ncbi.nlm.nih.gov/omim [Accessed April, 2012].
 
32. ACTINIC AND SEBORRHEIC KERATOSIS
 
General
Actinic is a precancerous lesion that occurs most commonly on sunlight-exposed areas of the skin. Seborrheic keratosis is a benign epithelial tumor that appears predominantly on the trunk and head.
 
Clinical
Lupus
 
Ocular
Eyebrow and eyelids lesions.17
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Cryosurgery is the treatment of choice.
 
Bibliography
  1. Roy FH, Fraunfelder FW, Fraunfelder FT. Roy and Fraunfelder's Current Ocular Therapy, 6th edition. WB Saunders;  Philadelphia:  2008.
 
33. ACTINOMYCOSIS
 
General
Caused by Gram-positive Actinomyces israelii.
 
Ocular
Hypopyon; conjunctivitis; keratitis; corneal ulcer; proptosis; uveitis; dacryocystitis; yellow nodules on conjunctiva and eyelids; occlusion of nasolacrimal canaliculi; canaliculitis; orbital abscess; endophthalmitis (rare).
 
Clinical
Chronic inflammatory induration and sinus formation.
 
Laboratory
Canalicular discharge may be sent for Gram stain/Giemsa stain, cultures and sensitivities (i.e. blood agar, Sabouraud, anaerobic), and special stains (i.e. calcofluor white).
 
Treatment
Penicillins and cephalosporins are useful. Subconjunctival penicillin coadministered with systemic iodides and topical sulfacetamide or penicillin can be used.
 
Additional Resource
  1. Roque MR (2010). Actinomycosis in Ophthalmology. [online] Available from http://www.emedicine.com/oph/TOPIC491.HTM [Accessed April, 2012].
 
34. ACUTE FOLLICULAR CONJUNCTIVITIS (ADENOVIRAL CONJUNCTIVITIS; PHARYNGOCONJUNCTIVAL FEVER; SYNDROME OF BEAL)
 
General
Infectious disease produced by adenovirus; serotypes 3, 4, 7, 8, 19, 37 and several others may cause acute conjunctivitis with or without upper respiratory tract involvement; epidemic keratoconjunctivitis has been reported worldwide associated with 11 virus serotypes, with serotypes 8, 11 and 19 being the most commonly responsible.
 
Ocular
Conjunctivitis; chemosis; keratitis; blepharitis; blepharospasm.
 
Clinical
Fever; pharyngitis; lymph node enlargement; malaise; myalgia; headache; diarrhea.18
 
Laboratory
Lab tests generally are not useful. Cell cultures from infected areas and adenoviral antibody titer allows for precise identification of serotype.
 
Treatment
Symptomatic control may include cold compresses and artificial tears; nonsteroidal and occasionally steroidal drops to relieve itching.
 
Additional Resource
  1. Scott IU (2012). Pharyngoconjunctival Fever. [online] Available from http://www.emedicine.com/oph/TOPIC501.HTM [Accessed April, 2012].
 
35. ACUTE FROSTED RETINAL PERIPHLEBITIS
 
General
Etiology unknown, virus suspected; involvement of veins and arteries; veins more severely affected.
 
Ocular
Vascular sheathing; retinal hemorrhages; exudative detachment; retinal neovascularization; thick, inflammatory infiltrates around retinal veins; macular detachment; retinal tears associated with posterior vitreous detachment; peripheral uveitis; retinal periphlebitis; associated cytomegalovirus retinitis in HIV-seropositive patients; observed as an idiopathic finding in a child.
 
Clinical
Associated with tuberculosis; syphilis; sarcoidosis; multiple sclerosis; HIV infection.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Retinal detachment: Scleral buckle, pneumatic retinopexy and vitrectomy may be used to close all the breaks.
 
Bibliography
  1. Kleiner RC, Kaplan HJ, Shakin JL, et al. Acute frosted retinal periphlebitis. Am J Ophthalmol. 1988;106:27–34.
  1. Mansour AM, Li HK. Frosted retinal periphlebitis in the acquired immunodeficiency syndrome. Ophthalmologica. 1993;207:182–6.
  1. Nakai A, Saika S. A case of frosted-branch retinal angiitis in a child. Ann Ophthalmol. 1992;24:415–7.
  1. Secchi AG, Tognon MS, Turrini B, et al. Acute frosted retinal periphlebitis associated with cytomegalovirus retinitis. Retina. 1992;12:245–7.
  1. Watanabe Y, Takeda N, Adachi-Usami E. A case of frosted branch angiitis. Br J Ophthalmol. 1987;71:553–8.19
 
36. ACUTE HEMORRHAGIC CONJUNCTIVITIS (APOLLO 11 DISEASE; AHC; EPIDEMIC HEMORRHAGIC KERATOCONJUNCTIVITIS)
 
General
First reported in 1969, first epidemic in the United States in 1981; enterovirus; explosive onset; usually bilateral; coxsackievirus A24 and enterovirus 70 have been implicated in the most recent outbreaks.
 
Ocular
Chemosis; follicular conjunctivitis; petechial bulbar hemorrhages; seromucous discharge; keratitis; lacrimation; lid edema; photophobia; preauricular lymphadenopathy.
 
Clinical
Systemic symptoms are rare, although several cases of lumbosacral radiculomyelitis have occurred late in the course of the disease; polio-like paralysis (associated with enterovirus 70).
 
Laboratory
Antisera have been used with good results. These are being supplanted by polymerase chain reaction (PCR) methods, which reduce the time needed for viral typing.
 
Treatment
Very contagious with transmitted eye to hand to eye contact. Self-limited course generally no treatment is necessary.
 
Additional Resource
  1. Plechaty G (2011). Acute Hemorrhagic Conjunctivitis. [online] Available from http://www.emedicine.com/oph/TOPIC492.HTM [Accessed April, 2012].
 
37. ACUTE MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY
 
General
Acquired inflammatory disorder of the retina; seen in healthy adults; characterized by placoid subretinal lesions; self-limited disease that resolve in weeks to months; frequently bilateral; cause is unknown but may be a hypersensitivity-induced vasculitis.
 
Clinical
Microvascular nephropathy; thyroiditis; hearing loss; cerebral angiitis; headache; flu-like symptoms.
 
Ocular
Yellow-white placoid subretinal lesions; retinal pigment epithelial disturbance; decreased visual acuity; episcleritis; optic neuritis; photophobia; photopsia.
 
Laboratory
Diagnosis is made from typical clinical appearance.
 
Treatment
No treatment is normally necessary because the lesions appear to run a relatively short 20self-limited course and generally have little residual effect. In complicated cases laser photocoagulation may be useful.
 
Additional Resource
  1. Kooragayala LM (2011). Acute Multifocal Placoid Pigment Epitheliopathy. [online] Available from http://www.emedicine.medscape.com/article/1225531-overview [Accessed April, 2012].
 
38. ACUTE ORBITAL COMPARTMENT SYNDROME
 
General
Increased pressure within the confined orbital space generally secondary to facial trauma or surgery; blindness can occur without prompt treatment.
 
Clinical
Facial trauma; head trauma.
 
Ocular
Decreased visual acuity; ischemic optic neuropathy; retrobulbar hematoma; diplopia; proptosis; eye pain; reduction of ocular motility; papilledema; cherry-red macula; ecchymosis of lids; chemosis; increased intraocular pressure; afferent pupillary defect; ophthalmoplegia.
 
Laboratory
Computed tomography (CT) or MRI may be useful to identify the etiology of compression.
 
Treatment
Immediate osmotic agents and carbonic anhydrase inhibitors should be used; lateral orbital canthotomy should be used as soon as diagnosis is made and life-threatening injuries are stabilized to prevent permanent visual loss.
 
Additional Resource
  1. Peak DA (2011). Acute Orbital Compartment Syndrome. [online] Available from http://www.emedicine.medscape.com/article/799528-overview [Accessed April, 2012].
 
39. ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY (WHITE DOT SYNDROME)
 
General
Inflammatory chorioretinopathy etiology unknown but can be associated with systemic conditions such as viral disease, thyroiditis, Lyme disease, tuberculosis and nephritis.
 
Clinical
Thyroiditis; erythema nodosum; Wegener granulomatosis; polyarteritis nodosa; nephritis; sarcoidosis; CNS vasculitis.
 
Ocular
Blurred vision; central and paracentral scotomas.
 
Laboratory
Clinical observation by funduscopic examination and fluorescein angiography.
 
Treatment
There is no current consensus on treatment and most resolve without treatment. Systemic and 21intravitreal steroids may be beneficial to shorten the duration and for those cases involving the fovea.
 
Additional Resource
  1. Mansour SE (2010). Multifocal Choroidopathy Syndromes. [online] Available from http://www.emedicine.medscape.com/article/1190935-overview [Accessed April, 2012].
 
40. ACUTE RETINAL NECROSIS SYNDROME (ARN SYNDROME; BARN SYNDROME; BILATERAL ACUTE RETINAL NECROSIS SYNDROME)
 
General
Evidence of association with herpes-type deoxyribonucleic acid (DNA) virus; occurs both unilaterally and bilaterally; includes varicella zoster virus and herpes simplex virus type 1.
 
Ocular
Uveitis; vasculitis; vitreitis; retinal detachment; vitreous opacification; retinal periarteritis; exudates of peripheral retina; retinal necrosis; optic nerve enlargement; papillitis; arcuate neuroretinitis; arteritis and phlebitis (affecting the retinal vasculature); necrotizing retinitis; moderate to severe vitreitis; anterior segment inflammation; optic neuritis; late retinal detachment.
 
Clinical
None
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Antiviral therapy, anti-inflammatory therapy, antithrombotic therapy and retinal detachment prophylaxis. Vitrectomy may be necessary.
 
Bibliography
  1. Tibbetts MD, Shah CP, Young LH, et al. Treatment of acute retinal necrosis. Ophthalmology. 2010; 117:818–24.
  1. Wong R, Pavesio CE, Laidlaw DA, et al. Acute retinal necrosis: the effects of intravitreal foscarnet and virus type on outcome. Ophthalmology. 2010;117:556–60.
 
Additional Resource
  1. Dahl AA (2011). Acute Retinal Necrosis. [online] Available from http://www.emedicine.com/oph/TOPIC377.HTM [Accessed April, 2012].
 
41. ADDISON PERNICIOUS ANEMIA SYNDROME (BIERMER SYNDROME; MACROCYTIC ANEMIA; PERNICIOUS ANEMIA SYNDROME; VITAMIN B12 DEFICIENCY ANEMIA)
 
General
Autosomal dominant; female preponderance; onset between the ages of 30 and 50 years; lack of intrinsic factor normally produced in the fundus of stomach and important for absorption of vitamin B12 in the intestinal tract; infrequent ocular involvement.22
 
Ocular
Central scotoma, centrocecal scotomata and field contractions in a few cases; retinal hemorrhages (round with white center) at the posterior pole; both retina and disk may have a whitish, hazy appearance; optic neuritis (ischemic); optic atrophy; palsies of extraocular muscles; ocular hypotony; cataract; bilateral, slowly progressive optic neuropathy and unclear etiology.
 
Clinical
Megaloblastic anemia (chronic and progressive); hypochlorhydria; glossitis; stomatitis; constipation or diarrhea; paresthesias and numbness; incoordination; ataxia; sphincter malfunction.
 
Laboratory
The peripheral blood usually shows a macrocytic anemia with a mild leukopenia and thrombocytopenia.
 
Treatment
The cause of the failure to absorb cobalamin (Cbl) should be determined. Vitamin B12 is available as either cyanocobalamin or hydroxocobalamin and each are useful in the treatment of vitamin B12 deficiency.
 
Additional Resource
  1. Schick P (2011). Pernicious Anemia. [online] Available from http://www.emedicine.com/med/TOPIC1799.HTM [Accessed April, 2012].
 
42. ADDISON SYNDROME (ADDISON DISEASE; ADRENAL CORTICAL INSUFFICIENCY; IDIOPATHIC HYPOPARATHYROIDISM; MONILIASIS-IDIOPATHIC HYPOPARATHYROIDISM)
 
General
Familial occurrence; association with moniliasis; onset during end of first and beginning of second decade of life; atrophy of adrenal cortex; prognosis for life is poor, with death in adrenal crisis.
 
Ocular
Ptosis; blepharitis; blepharospasm; keratoconjunctivitis with extreme photophobia; corneal ulcers; episcleritis; keratitic moniliasis; cataracts; papilledema.
 
Clinical
Moniliasis; tetany; progressive weakness; anorexia; progressive skin pigmentation; dry skin; brittle fingernails and toenails; sparse pubic and axillary hair or total alopecia; impotence.
 
Laboratory
Diagnosis made rests on the functional capacity of the adrenal cortex to synthesize cortisol. This is accomplished primarily by use of the rapid adrenocorticotropic hormone (ACTH) stimulation test (Cortrosyn, Cosyntropin or Synacthen).
 
Treatment
Endocrinologist should be consulted the acute care and chronic care.
 
Additional Resources
  1. Griffing GT (2010). Addison Disease. [online] Available from http://www.emedicine.com/med/TOPIC42.HTM [Accessed April, 2012].
  1. Liotta EA (2010). Addison Disease. [online] Available from http://www.emedicine.medscape.com/article/1096911-overview [Accessed April, 2012].23
 
43. ADIE SYNDROME (HOLMES-ADIE SYNDROME; IRIDOPLEGIA INTERNA; MARKUS SYNDROME; MYOTONIC PUPIL; PSEUDOTONIC PUPILLOTONIA; ROSS SYNDROME; SAENGER SYNDROME; TONIC PUPIL; WEILL-REYE'S SYNDROME)
 
General
Cause unknown; more frequent in females; manifested in the second and third decades; abnormal sensitivity to 2.5% solution of methacholine; segmental compensatory hyperhidrosis; tonic pupil constricts, whereas normal pupils are unaffected; tonic pupil, hyporeflexia and segmental hypohidrosis are manifestations of Ross syndrome.
 
Ocular
Slightly enlarged pupils; delayed or diminished direct and consensual reaction to light; usually unilateral; consensual reflex is abolished on the affected side but normal on the other; amblyopia.
 
Clinical
Loss of tendon reflexes, particularly ankle and knee jerk (partial or total).
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
None
 
Bibliography
  1. Agbeja AM, Dutton GN. Adie's syndrome as a cause of amblyopia. J Pediatr Ophthalmol Strabismus. 1987;24:176–7.
 
44. ADRENOLEUKODYSTROPHY (MELANODERMIC LEUKODYSTROPHY; SUDANOPHILIC LEUKODYSTROPHY)
 
General
Degenerative metabolic disease in which cholesterol with long-chain fatty acids accumulates in affected cells; symptoms usually begin between the ages of 3 and 12 years but may have their onset in adulthood; X-linked recessive with predominantly central nervous system and adrenal dysfunction.
 
Ocular
Optic atrophy; retinal ganglion cell degeneration; exotropia; esotropia; cataracts; optic pallor; optic nerve hypoplasia; visual field defects; macular pigmentary changes; progressive visual loss.
 
Clinical
Central nervous system manifestations consisting of behavioral changes, disturbance of gait, dysarthria and dysphagia; seizures; spastic quadriparesis; decorticate posturing; one-third of patients show adrenal insufficiency.
 
Laboratory
A cosyntropin stimulation test will confirm the diagnosis of adrenocortical insufficiency.
 
Treatment
Once electrolytes, blood sugar, cortisol, 17-hydroxyprogesterone and ACTH concentrations are 24obtained treatment with glucocorticoids can be used. This therapy is based on suspicion of adrenal insufficiency, since it may be life preserving.
 
Additional Resource
  1. Wilson TA (2012). Adrenal Hypoplasia. [online] Available from http://www.emedicine.com/ped/TOPIC45.HTM [Accessed April, 2012].
 
45. ADULT CATARACTS
 
General
Cataract is a disorder in which the crystalline lens becomes opacified.
 
Clinical
None
 
Ocular
Glare, monocular diplopia, changes in refractive error, decreased visual acuity.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Change in glasses can sometimes improve a patient's visual function temporarily; however, the most common treatment is cataract surgery.
 
Bibliography
  1. Roy FH, Fraunfelder FW, Fraunfelder FT. Roy and Fraunfelder's Current Ocular Therapy, 6th edition. WB Saunders;  Philadelphia:  2008.
 
46. AFRICAN EYE WORM DISEASE (LOIASIS)
 
General
Caused by the filarial nematode Loa loa; transmitted to humans by diurnally biting flies (deerflies) of the Chrysops species that live in the rainforests of West and Central Africa.
 
Ocular
Parasites of anterior chamber, conjunctiva, eyelid, vitreous and choroid; conjunctivitis; keratitis; optic nerve atrophy; white, cottony mass of vitreous; central retinal artery occlusion; macular hemorrhages; paralysis of extraocular muscles; nystagmus; uveitis.
 
Clinical
Transient erythematous swelling; pruritus; eosinophilia; fever; urticaria; rarely neurologic involvement.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Remove surgically when possible.
 
Additional Resource
  1. Hökelek M (2011). Nematode Infections. [online] Available from http://www.emedicine.medscape.com/article/224011-overview [Accessed April, 2012].25
 
47. AFTER CATARACTS
 
General
After cataract is a term originally used to describe lens epithelial cell proliferation following cataract surgery.
 
Clinical
None
 
Ocular
Posterior capsule opacification, delayed endophthalmitis.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Laser posterior capsulotomy.
 
Bibliography
  1. Roy FH, Fraunfelder FW, Fraunfelder FT. Roy and Fraunfelder's Current Ocular Therapy, 6th edition. WB Saunders;  Philadelphia:  2008.
 
48. AGE-RELATED MACULAR DEGENERATION
 
General
Pathologic changes of this chronic degenerative condition occur primarily in the retinal pigment epithelium, Bruch's membrane and the choriocapillaris of the macular region.
 
Clinical
Hypertension, high cholesterol level.
 
Ocular
Vision loss, choroidal neovascularization.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
No treatment available for non-neovascular age-related macular degeneration (AMD). Preventative therapy includes no smoking, control of hypertension, cholesterol and blood sugar, exercise and vitamins. Neovascular AMD treatment consists of laser, Avastin and Lucentis.
 
Bibliography
  1. Lima LH, Schubert C, Ferrara DC, et al. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology. 2010;117:1567–70.
 
Additional Resources
  1. Prall FR (2012). Exudative ARMD. [online] Available from http://www.emedicine.com/oph/TOPIC653.HTM [Accessed April, 2012].
  1. Maturi RK (2011). Nonexudative ARMD. [online] Available from http://www.emedicine.com/oph/TOPIC383.HTM [Accessed April, 2012].26
 
49. AGRANULOCYTOSIS SYNDROME (AGRANULOCYTIC ANGINA SYNDROME; MALIGNANT NEUTROPENIA SYNDROME; PERNICIOUS LEUKOPENIA SYNDROME; SCHULTZ SYNDROME)
 
General
Caused by hypersensitivity reaction to chemicals, drugs and ionizing radiation; may be idiopathic; more frequent in adults; female preponderance (3:1); acute onset.
 
Ocular
Scleral and conjunctival icterus; conjunctival hemorrhages; retinal hemorrhages.
 
Clinical
Swollen, painful joints; malaise; sore throat with mucous membrane ulceration; sepsis.
 
Laboratory
Evaluation of the peripheral blood smear provides information about RBC and platelet morphology.
 
Treatment
Indentify etiology and discontinue the offending agent. If the identity of the causative agent is not known, stop administration of all drugs until the etiology is established.
 
Additional Resource
  1. Godwin JE (2011). Neutropenia. [online] Available from http://www.emedicine.com/med/TOPIC82.HTM [Accessed April, 2012].
 
50. AICARDI SYNDROME
 
General
All symptoms present at birth; cause unknown; all findings progress with age; shows X-linked dominant inheritance.
 
Ocular
Microphthalmia; lid twitching; absent pupillary reflexes; round retinal lacunae up to disk size look like holes with retinal vessels crossing over them; funnel-shaped disk; chorioretinitis.
 
Clinical
Infantile spasms (tonic seizures in flexion); epileptic seizures; cyanosis; mental anomaly; vertebral anomalies; telangiectasia; hypotonia; head deformities with biparietal bossing, occipital flattening and plagiocephaly; defects of corpus callosum; cortical heterotopia; characteristic electroencephalogram; dilated intracranial ventricle with leukomalacia.
 
Laboratory
Generally diagnosis is made by clinical findings. Neuroimaging can delineate the degree of CNS dysgenesis and help evaluate other potential etiologies of intractable epilepsy and developmental delay.
 
Treatment
Consultation with a child neurologist is recommended. Use of traditional epilepsy therapies for seizure manifestations is recommended.
 
Additional Resource
  1. Davis RG (2012). Aicardi Syndrome. [online] Available from http://www.emedicine.com/ped/TOPIC58.HTM [Accessed April, 2012].27
 
51. ALACRIMA
 
General
Autosomal recessive; wide spectrum of lacrimal secretory disorders that are mostly congenital in origin; symptoms of these disorders can range from a complete absence of tears to hyposecretion of tears; symptoms of rarer disorders include a selective absence of tearing in response to emotional stimulation but a normal secretory response to mechanical stimulation; may be associated with syndromes such as Riley-Day, anhidrotic ectodermal dysplasia, Sjögren and Allgrove.
 
Clinical
Decreased salivation and sweating; osteoporosis; short stature; adrenocortical insufficiency.
 
Ocular
Foreign body sensation; photophobia, decreased visual acuity; absence of tears; chronic blepharoconjunctivitis; hyperemia; thick mucoid discharge; keratinization; pannus; corneal ulcers or perforation; tonic pupils; optic atrophy.
 
Laboratory
Computed tomography (CT) scan of orbits to determine aplastic lacrimal glands; schirmer testing; conjunctival and lacrimal gland biopsy.
 
Treatment
Artificial tears, gels and ointments are used as the primary treatment. Permanent or temporary punctal occlusion can be effective. Tarsorrhaphy may be necessary if the cornea becomes compromised.
 
Additional Resource
  1. DeAngelis DD (2010). Alacrima. [online] Available from http://www.emedicine.medscape.com/article/1210539-overview [Accessed April, 2012].
 
52. ALAGILLE SYNDROME (AGS; ALAGILLE-WATSON SYNDROME, AWS; CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS; ARTERIOHEPATIC DYSPLASIA, AHD; HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC)
 
General
Alagille syndrome may be associated with 20p 11.2 deletion and four distinct coding mutations in JAG1 gene.
 
Ocular
Posterior embryotoxon and retinal pigmentary changes; anterior chamber anomalies, associated with eccentric or ectopic pupils.
 
Clinical
Neonatal jaundice; prominent forehead and chin; pulmonic valvular stenosis as well as peripheral arterial stenosis; abnormal vertebrae (“butterfly” vertebrae) and decrease in interpediculate distance in the lumbar spine; absent deep tendon reflexes and poor school performance; in the facies, broad forehead, pointed mandible and bulbous tip of the nose; and in the fingers, varying degrees of foreshortening.
 
Laboratory
Liver biopsy specimens typically exhibit features suggestive of chronic cholestasis and paucity of interlobular bile ducts. The majority of biopsies (wedge or needle) reveal features of bile duct paucity.28
 
Treatment
Subspecialty consultation may facilitate diagnosis and provide long-term care. Consultation with an ophthalmologist may provide the diagnosis. A pediatric hepatologist can assist with management of chronic cholestatic liver disease. Cardiology consultation can assist with the diagnosis and therapy for intracardiac disease, as well as other vascular abnormalities. Nephrology consultation is useless when structural renal disease is present or if suspicions of evolving renal insufficiency arise.
 
Additional Resource
  1. Scheimann A (2012). Alagille Syndrome. [online] Available from http://www.emedicine.com/ped/TOPIC60.HTM [Accessed April, 2012].
 
53. ALBERS-SCHONBERG DISEASE (MARBLE BONE DISEASE; OSTEOPETROSIS; OSTEOPOIKILOSIS; OSTEOSCLEROSIS CONGENITA DIFFUSA; OSTEOSCLEROSIS FRAGILIS GENERALISATA)
 
General
Simple recessive inheritance, also dominant transmission; benign form is asymptomatic in about 50% of cases and known under the synonym Henck-Assmann syndrome; prognosis is poor for malignant form, with death usually in infancy.
 
Ocular
Oculomotor paralysis; cranial nerve VII (facial) palsy; optic atrophy; ptosis; exophthalmos; papilledema; nystagmus; anisocoria; congenital cataracts; hypertelorism; visual loss in infancy; nasolacrimal duct obstruction; keratoconus.
 
Clinical
Cartilage and bone thickening; multiple fractures; hyperchromic anemia; osteomyelitis; severe forms: jaundice, hepatosplenomegaly, skeleton sclerosis, lymphadenopathy and hydrocephalus in infants; mild forms: nerve compression, fractures and milder form of anemia; pancytopenia from marrow obliteration; low serum calcium; elevated phosphorus.
 
Laboratory
Radiologic features are usually diagnostic. Patients usually have generalized osteosclerosis. Bones may be uniformly sclerotic, but alternating sclerotic and lucent bands may be noted in iliac wings and near ends of long bones. The bones might be clublike or appear like a bone within bone.
 
Treatment
Infantile therapy: Vitamin D appears to help by stimulating dormant osteoclasts and thus stimulate bone resorption. Large doses of calcitriol, along with restricted calcium intake, sometimes improve osteopetrosis dramatically.
Adult treatment: No specific medical treatment exists for the adult type.
 
Additional Resource
  1. Blank R (2012). Osteopetrosis. [online] Available from http://www.emedicine.com/med/TOPIC1692.HTM [Accessed April, 2012].29
 
54. ALBINISM (BROWN OCULOCUTANEOUS ALBINISM; NETTLESHIP-FALLS SYNDROME)
 
General
Congenital hypopigmentation.
1. Complete.
 
Ocular
Iris thin, pale blue; prominent choroidal vessels with poorly defined fovea; nystagmus; head nodding; frequently myopic astigmatism and strabismus; marked photophobia; eyelashes and eyebrows are white; optic atrophy; cataract; abnormal decussation of retinogeniculate axons at the chiasm.
 
Clinical
White hair, eyebrows and skin; autosomal recessive.
2. Modified complete.
 
Ocular
Slight pigmentation at pupillary border; may be nystagmus, photophobia and myopia; choroidal vessels prominent.
 
Clinical
Negroes; slight pigmentation; golden hair; tendency to hyperkeratoses; freckling in exposed areas of skin; autosomal recessive.
3. Ocular.
 
Ocular
Marked deficiency of pigment in iris and choroid; nystagmus and myopic astigmatism; iris of female carrier frequently is translucent; macular hypoplasia; photophobia; pigmentation of retinal pigment epithelium.
 
Clinical
Normal pigmentation elsewhere; autosomal recessive.
4. Amish.
 
Ocular
At birth, complete albinism with blue translucent irides and albinotic fundal reflex; nystagmus; photophobia; increasing pigmentation with age; abnormal decussation of retinogeniculate axons at the chiasm.
 
Clinical
White hair and skin at birth; increasing pigmentation with yellow hair and normal skin that tans; autosomal recessive.
 
Laboratory
The most definitive test in determining the albinism type is genetic sequence analysis. This test is useful only for families with individuals who have albinism. The test cannot be used as a screening tool.
 
Treatment
Currently, there is no therapy for albinism. Sunglasses to reduce photophobia, low-vision aids and treatment for strabismus might be useful.
 
Additional Resource
  1. Bashour M (2010). Albinism. [online] Available from http://www.emedicine.com/oph/TOPIC315.HTM [Accessed April, 2012].30
 
55. ALBRIGHT SYNDROME (FIBROUS DYSPLASIA; FULLER ALBRIGHT SYNDROME; JAFFE-LICHTENSTEIN SYNDROME; MCCUNE-ALBRIGHT SYNDROME; OSTEITIS FIBROSA DISSEMINATA; OSTEODYSTROPHIA FIBROSA; POLYOSTOTIC FIBROUS DYSPLASIA)
 
General
Etiology unknown; disease rare; manifested in children and young adults; found predominantly in females.
 
Ocular
Unilateral proptosis; papilledema; optic atrophy; lacrimal fossa mass; acute or chronic monocular visual loss.
 
Clinical
Medullary structures replaced by fibrous dysplasia; pelvic bones and lower extremities most frequently involved (spontaneous fractures); brown pigmented areas of skin, from small, freckle-like dots to large, flat patches on thighs, sacrum, upper spine, neck and scalp; endocrine dysfunction (precocious puberty in females) with early menarche, adolescent external genitalia and breast enlargement; loss of hearing; convulsions; mental retardation.
 
Laboratory
A highly sensitive polymerase chain reaction test can find activating mutations of the GNAS1 gene in peripheral blood cells of patients with McCune-Albright syndrome (MAS) or isolated fibrous dysplasia. Full endocrine studies should be performed, arterial blood gas determination can be performed to evaluate for acidosis and a complete metabolic profile can be performed to screen for hyperbilirubinemia.
 
Treatment
Endocrinology consultation is indicated to manage endocrine defects. Orthopedist consultation is helpful for pathologic fractures.
 
Additional Resource
  1. Scheinfeld NS (2011). Albright Syndrome. [online] Available from http://www.emedicine.com/derm/TOPIC13.HTM [Accessed April, 2012].
 
56. ALCOHOLISM
 
General
Classified into three groups: (1) symptoms of mental disease, (2) physiologic poison or (3) result of social drinking; addiction compounds other health disorders.
 
Ocular
Congestion of conjunctiva; amblyopia; diplopia; night blindness; nystagmus; cataracts; paralysis of accommodation; paralysis of extraocular muscles; esophoria for distance fixation; acute visual loss; cotton-wool spots; cherry-red spot (associated with pancreatitis).
 
Clinical
Tremors; seizures; delirium; alcoholic hepatitis; cirrhosis; gastritis; pancreatitis; cancer of mouth and esophagus; peripheral neuropathy; organic brain disease; hypertension; cardiomyopathy; hypoglycemia; anemia; hyperuricemia; susceptibility to infections; skeletal myopathies.31
 
Treatment
Address the issue, strongly encourage AA and encourage family members to contact Al-Anon and Alateen.
 
Additional Resource
  1. Thompson W (2012). Alcoholism. [online] Available from http://www.emedicine.com/med/TOPIC98.HTM [Accessed April, 2012].
 
57. ALEXANDER DISEASE
 
General
Rare degenerative neurologic disorder characterized by diffuse demyelination in the presence of Rosenthal fibers; cases may resemble multiple sclerosis; neuroradiological findings include increased cerebellar white matter hyperintensity and diffuse periventricular signal hyperintensities.
 
Ocular
Impaired smooth pursuit; gaze-evoked horizontal nystagmus; slowed saccades; ocular myoclonus.
 
Clinical
In infants, hydrocephalus, spasticity and seizures; in juveniles and adults, bulbar palsy and hyperreflexia, intermittent neurologic dysfunction.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
None
 
Bibliography
  1. Reichard EA, Ball WS, Bove KE. Alexander disease: a case report and review of the literature. Pediatr Pathol Lab Med. 1996;16:327–43.
  1. Russo LS, Aron A, Anderson PJ. Alexander's disease: a report and reappraisal. Neurology. 1976;26:607–14.
 
58. ALKALINE INJURY OF THE EYE
 
General
A splash of alkaline solution causes the pH to rise and results in immediate damage to the external ocular tissues. These injuries are frequently seen from household chemicals or farming injuries from liquid ammonia used as fertilizer.
 
Ocular
Pain; lacrimation; blepharospasm; rise in intraocular pressure; rapid penetration of the cornea and sclera; chemical injury to iris, lens or ciliary body; symblepharon; phthisis bulbi; ankyloblepharon.
 
Laboratory
Diagnosis is made by clinical findings and history.
 
Treatment
Immediate copious irrigation, sticky paste of lime should be removed with a cotton-tipped applicator, mydriasis and topical antibiotics, pain 32medications, treatment of glaucoma with carbonic anhydrase inhibitors, patching and soft contact lenses may facilitate re-epithelialization, insertion of a methylmethacrylate ring may prevent fibrinous adhesions, lysis of adhesions with or without mucous membrane grafts, corneal stem cell transplantation, corneal transplantation, keratoprosthesis and conjunctival autographs.
 
Bibliography
  1. Roy FH, Fraunfelder FW, Fraunfelder FT. Roy and Fraunfelder's Current Ocular Therapy, 6th edition. WB Saunders;  Philadelphia:  2008.
 
59. ALKAPTONURIA (GARROD SYNDROME; OCHRONOSIS)
 
General
Rare autosomal recessive metabolic disease; enzyme homogentisic acid oxidase missing; both sexes affected; onset in the first few days of life; manifestations more severe in males.
 
Ocular
Pigmentation of cornea, sclera and conjunctiva; ochronosis of sclera; oil globulation within Bowman's membrane.
 
Clinical
Black-colored urine on standing; osteoarthritis; valvular heart disease; atherosclerosis (homogentisic acid oxidase deficiency); pigmentation of cartilage and other connective tissues.
 
Laboratory
Homogentisic acid can be identified in urine using gas chromatography—mass spectroscopy.
 
Treatment
Reduction of phenylalanine and tyrosine reduced homogentisic acid excretion in the urine of a child. Vitamin C, up to 1 g/d, is recommended for older children and adults.
 
Additional Resource
  1. Roth KS (2011). Alkaptonuria. [online] Available from http://www.emedicine.com/ped/TOPIC64.HTM [Accessed April, 2012].
 
60. ALLERGIC CONJUNCTIVITIS (ALLERGIC RHINOCONJUNCTIVITIS; ATOPIC KERATOCONJUNCTIVITIS; GIANT PAPILLARY CONJUNCTIVITIS; HAY FEVER CONJUNCTIVITIS)
 
General
Exposure of sensitive individuals to specific allergens, recurrent, seasonal (spring and summer due to pollens) or house dust and animal dander.
 
Clinical
None
 
Ocular
Itching, conjunctival erythema and chemosis, papillary hypertrophy.
 
Laboratory
Diagnosis is made by clinical findings.33
 
Treatment
Artificial tears, cool compresses, vasoconstrictors, antihistamines, mast cell stabilizers, nonsteroidal anti-inflammatories, steroids and systemic antihistamine.
 
Additional Resource
  1. Ventocilla M (2012). Allergic Conjunctivitis [online] Available from http://www.emedicine.com/oph/TOPIC85.HTM [Accessed April, 2012].
 
61. ALLERGIC TO EVERYTHING SYNDROME
 
General
“Environmentally ill” or allergic to unusual or common substances in the environment; females affected most frequently.
 
Ocular
Transient visual loss.
 
Clinical
Stupor; lethargy; memory loss; depression; gastrointestinal dysfunction; rashes; migraine headache; hearing loss.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Adequate hygiene and avoidance of the contactant may be helpful. Many cases of localized mild contact dermatitis respond well to cool compresses and adequate wound care. Antibiotic therapy may be necessary for secondary infection. Low-strength topical steroids, such as hydrocortisone, may be effective in decreasing inflammation and symptoms associated with very mild contact dermatitis. Systemic steroids are the mainstay of therapy in acute episodes of severe extensive allergic contact dermatitis.
 
Additional Resource
  1. Elston DM (2011). Pediatric Contact Dermatitis. [online] Available from http://www.emedicine.com/ped/TOPIC2569.HTM [Accessed April, 2012].
 
62. ALLGROVE SYNDROME
 
General
Autosomal recessive.
 
Ocular
Distichiasis, conjuncitivitis, keratitis, congenital alacrima.
 
Clinical
Adrenocorticotropic hormone (ACTH) insensitivity, achalasia.
 
Laboratory
Lacrimal gland biopsy is examined with an electron microscope. Evidence of neuronal degeneration associated with depletion of secretory granules in the acinar cells are present. The reduced or absent lacrimation that accompanies this change frequently leads to the dehydration-induced keratopathy observed with rose Bengal staining. CT demonstrates atrophic adrenal glands. As with all states of ACTH unresponsiveness, one may expect to see atrophy of the zona fasciculata.34
 
Treatment
Replacement of glucocorticoids in patients with known adrenal insufficiency is critical to avoid an adrenal crisis. The symptoms of alacrima can be handled with topical lubricants or punctal occlusion. Achalasia is best managed with surgical correction either pneumatic dilatation or anterior cardiomyotomy.
 
Additional Resource
  1. Boston BA (2012). Allgrove (AAA) Syndrome. [online] Available from http://www.emedicine.com/ped/TOPIC71.HTM [Accessed April, 2012].
 
63. ALOPECIA AREATA
 
General
Unknown etiology; increased incidence of autoimmune disease, Addison disease, diabetes mellitus and vitiligo; initially occurs episodically; most commonly in patients between the ages of 5 and 40 years; most cases repopulate with normal hair in 6–12 months without any specific treatment.
 
Ocular
Loss of eyelashes and eyebrows; cataract.
 
Clinical
Circumscribed patches of hair loss on scalp and all body hair areas; fingernail changes.
 
Laboratory
Diagnosis usually can be made on clinical findings; a scalp biopsy seldom is necessary.
 
Treatment
The condition is benign, and spontaneous remissions and recurrences are common. Generally treatments used are to stimulate hair growth.
 
Additional Resource
  1. Bolduc C (2010). Alopecia Areata. [online] Available from http://www.emedicine.com/derm/TOPIC14.HTM [Accessed April, 2012].
 
64. ALPORT SYNDROME (FAMILIAL NEPHRITIS; HEREDITARY FAMILIAL CONGENITAL HEMORRHAGIC NEPHRITIS; HEREDITARY NEPHRITIS)
 
General
Autosomal dominant inheritance; early death in males; normal life span in females.
 
Ocular
Anterior lenticonus (bilateral progressive); subcapsular cataracts; thinning of lens capsule; fundus albipunctatus; retinopathy similar to juvenile macular degeneration; hyaline bodies of optic nerve head; vesicles in Descemet's membrane affecting basement membrane collagen; anterior and polar cataracts.
 
Clinical
Hemorrhagic nephritis; progressive nerve deafness; deafness (high tone, sensorineural); most often transmitted as an X-linked dominant 35trait, although dominant and recessive transmission has been reported.
 
Laboratory
Urinalysis reveals microscopic or gross hematuria. Renal ultrasonography is indicated for children with persistent microscopic hematuria.
 
Treatment
There is no treatment to prevent progression. Renal transplantation is the treatment of choice.
 
Additional Resource
  1. Prasad D (2011). Pediatric Alport Syndrome. [online] Available from http://www.emedicine.com/ped/TOPIC74.HTM [Accessed April, 2012].
 
65. ALSTROM DISEASE (CATARACT AND RETINITIS PIGMENTOSA)
 
General
Retinal lesion associated with deafness; severe visual loss in the first decade.
 
Ocular
Cataract; retinitis pigmentosa; optic atrophy; salt and pepper pigment epithelial abnormalities. Electroretinogram pathognomonic findings include initially normal rod component, which can become undetectable as early as 5 years of age; undetectable cone activity at 18 months.
 
Clinical
Nerve deafness; diabetes mellitus in childhood; obesity; renal disease; baldness; hyperuricemia; hypogenitalism; acanthosis nigricans; skeletal anomalies; diabetes mellitus; deafness.
 
Laboratory
Diagnosis is made by clinical observation.
 
Treatment
Vitamin A 15,000 IU/day is thought to slow the decline of retinal function, dark sunglasses for outdoor use, surgery for cataract, genetic counseling.
 
Bibliography
  1. Geeraets WJ. Ocular Syndromes, 3rd edition. Lea & Febiger;  Philadelphia:  1976.
  1. Harley RD (Ed). Pediatric Ophthalmology, 4th edition. WB Saunders;  Philadelphia:  1998.
  1. Konigsmark BW, Knox DL, Hussels IE, et al. Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family. Arch Ophthalmol. 1974;91:99–103.
  1. Millay RH, Weleber RG, Heckenlively JR. Ophthalmologic and systemic manifestations of Alstrom's disease. Am J Ophthalmol. 1986;102:482–90.
  1. Tremblay F, LaRoche RG, Shea SE, et al. Longitudinal study of the early electroretinographic changes in Alstrom's syndrome. Am J Ophthalmol. 1993;115:657–65.
 
66. ALZHEIMER DISEASE (DEMENTIA)
 
General
Diffuse brain atrophy coming on well before the senile period of life; progressive; etiology currently unknown but hereditary disorder suspected; terminally, nearly decorticate, with loss of all ability to think, perceive, speak or move.36
 
Ocular
Fixed dilated pupil; optic atrophy; decreased contrast sensitivity, color vision and stereo vision; abnormalities of the optic nerve head and nerve fiber layer; controversy exists regarding the ability to diagnose patients with Alzheimer disease by their marked hypersensitivity in pupil dilation response to tropicamide.
 
Clinical
Emotional disturbances; depression; anxiety; antisocial behavior; aphasia; apraxic disturban-ces; abnormalities of space perception; shuffling gait; generalized shuffling gait with short steps; disturbances in thought process.
 
Laboratory
Brain MRI or CT scans show diffuse cortical and/or cerebral atrophy.
 
Treatment
Medical treatments include psychotropic medications and behavioral interventions, cholinesterase inhibitors and the avoidance of centrally acting anticholinergic medications, N-methyl– D-aspartate antagonists, and other and new therapeutic interventions.
 
Additional Resource
  1. Anderson HS (2012). Alzheimer Disease. [online] Available from http://www.emedicine.com/neuro/TOPIC13.HTM [Accessed April, 2012].
 
67. AMANTADINE-ASSOCIATED CORNEAL EDEMA
 
General
Onset from 2 months to several years following the start of the drug amantadine. Most corneal edema resolves after the discontinuation of therapy; however, some cases do not and result in the need for surgical correction. Amantadine is an antiviral agent used for the treatment of Parkinson or multiple sclerosis.
 
Clinical
Multiple sclerosis, Parkinson disease.
 
Ocular
Corneal edema, loss of endothelial cells, loss of visual acuity.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Most cases resolve by stopping the use of amantadine. If corneal decompensation is persistent after discontinuation a penetrating keratopathy may be necessary.
 
Bibliography
  1. Jeng BH, Galor A, Lee MS, et.al. Amantadine-associated corneal edema potentially irreversible even after cessation of the medication. Ophthalmology. 2008;115:1540–4.37
 
68. AMAUROSIS FUGAX SYNDROME
 
General
Caused by malignant hypertension; often occurs in association with heavy smoking; may indicate vascular insufficiency of the vertebrobasilar arterial system; may precede a cerebrovascular accident and not infrequently seen in vascular insufficiency problems of the carotid arterial system; the cause, if found, is commonly an abnormality in the ipsilateral carotid artery or a cardiac source of embolism.
 
Ocular
Partial blindness in short attacks to permanent complete blindness; scintillating scotoma; teichopsia; retinal arteriolar spasm; signs of arteriolar sclerosis.
 
Clinical
Malignant hypertension; atherosclerosis; expanding lesions of the frontal or temporal lobe; vascular insufficiency.
 
Laboratory
There is no specific test but is essential to evaluate the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels to rule out other causes. Doppler test may be useful.
 
Treatment
No specific treatment, except when the Doppler test is positive, carotid surgery may be indicated.
 
Additional Resource
  1. Leibovitch I (2011). Ocular Ischemic Syndrome. [online] Available from http://www.emedicine.com/oph/TOPIC487.HTM [Accessed April, 2012].
 
69. AMBLYOPIA (FUNCTIONAL AMBLYOPIA; LAZY EYE)
 
General
Reduction of best-corrected visual acuity that cannot be explained by structural abnormalities. Usually associated with strabismus or anisometropic. Onset in childhood.
 
Clinical
None
 
Ocular
Decreased central visual acuity, decreased contrast sensitivity, strabismus, anisometropic.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
If there is a obstacle to vision such as cataract, corneal opacity, ptosis or refractive error, this must be treated first. Occlusion of the sound eye is the mainstay of treatment and the success depends on the compliance. Atropine ophthalmic drops can be used in the sound eye in mild or moderate cases of amblyopia. Early diagnosis and treatment provide the best chance of regaining useful vision.
 
Additional Resource
  1. Yen KG (2011). Amblyopia. [online] Available from http://www.emedicine.com/oph/TOPIC316.HTM [Accessed April, 2012].38
 
70. AMBLYOPIC SCHOOLGIRL SYNDROME
 
General
Etiology unknown.
 
Ocular
Amblyopia; changes in visual fields; abnormal dark adaptation curve; visual field defects usually are tubular or spiral but also include central, paracentral and ring scotomas; hemianopsias and superior and inferior field defects reported.
 
Clinical
Psychogenic disorder: affective and hysterical.
 
Laboratory
Organic cause for decreased vision and the ocular examination is normal, then further investigations into retinal or optic nerve causes should be initiated. Studies to perform include imaging of the visual system through CT scan, MRI and fluorescein angiography to assess the retina.
 
Treatment
Organic cause should be determined and treated. Occlusion therapy, forcing the use of the amblyopic eye, has been the mainstay of treatment.
 
Additional Resource
  1. Yen KG (2011). Amblyopia. [online] Available from http://www.emedicine.com/oph/TOPIC316.HTM [Accessed April, 2012].
 
71. AMEBIASIS (AMEBIC DYSENTERY)
 
General
Caused by Entamoeba histolytica; E. histolytica cysts in stools are diagnostic.
 
Ocular
Conjunctivitis; iridocyclitis; hypopyon; central choroiditis; retinal hemorrhages; retinal perivasculitis; macular edema; corneal ulceration; granulomatous and nongranulomatous uveitis; vitreous hemorrhage.
 
Clinical
Chronic dysentery; abscesses of liver and brain; toxic megacolon.
 
Laboratory
Enzyme immunoassay (EIA) is the best test for making the specific diagnosis of E. histolytica.
 
Treatment
Metronidazole is considered the drug of choice for symptomatic, invasive disease. Asymptomatic intestinal infection may be treated with iodoquinol, paromomycin or diloxanide furoate.
 
Additional Resource
  1. Dhawan VK (2010). Pediatric Amebiasis. [online] Available from http://www.emedicine.com/ped/TOPIC80.HTM [Accessed April, 2012].39
 
72. AMENDOLA SYNDROME
 
General
Observed in Sao Paulo, Brazil; all ethnic groups are affected; endemic form of pemphigus foliaceus; possibly caused by environmental agents; autoimmune disease mediated by autoantibodies of the immunoglobulin G (IgG) class, IgG4 subclass.
 
Ocular
Blisters around eyebrows; entropion; ectropion; trichiasis; iritis.
 
Clinical
Brazilian pemphigus (fogo selvagem, “wild fire”), which resembles, because of its appearance, pemphigus foliaceus; fever; chills.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Entropion: Topical antibiotics and lubricants, temporary sutures to evert the eyelid, lateral cantholysis with subconjunctival incision just inferior to the tarsus. Inferior retractors are isolated and reattached to anteroinferior portion of tarsus with multiple interrupted sutures.
Ectropion: Topical ocular lubricants. Congenital-full thickness skin graft with canthal tendon tightening. Involutional-tighten lid by resecting full thickness wedge-medial spindle procedure for punctal eversion. Paralytic may require a fascia lata sling procedure if it does not resolve in 3–6 months.
Iritis: Oral steroids if not responsive to topical steroids, immunosuppressants if bilateral disease that does not respond to oral steroids, periocular steroids for unilateral or posterior uveitis. Vitrectomy can be used for severe vitreous opacification. Cryotherapy and laser photocoagulation may be used for localized pars plana exudates.
 
Bibliography
  1. Amendola F. Cataracta no pemfigo foliaceo (nota previa). Rev Paul Med. 1945;26:286.
  1. Korting GW. The skin and the eye: a dermatologic correlation of diseases of the periorbital region. WB Saunders;  Philadelphia:  1973. p. 82.
  1. Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd edition. JB Lippincott;  Philadelphia:  1981.
  1. Sampaio SA, Rivitti EA, Aoki V, et al. Brazilian pemphigus foliaceus, endemic pemphigus foliaceus, or fogo selvagem (wild fire). Dermatol Clin. 1994;12:765–76.
 
73. AMERICAN MUCOCUTANEOUS LEISHMANIASIS (CUTANEOUS LEISHMANIASIS; ORIENTAL SORE)
 
General
Causative agent is protozoal parasite Leishmania braziliensis.
 
Ocular
Keratitis; eyelid edema; conjunctival ulcer; vascular sclerosis of choroid; granulomata of eyelid and conjunctiva; blepharoconjunctivitis.40
 
Clinical
Ulcerating granulomas of the skin, nasal septum, nasopharynx, lips, soft palate, larynx and genitals.
 
Laboratory
The parasite can be detected through direct evidence from peripheral blood, bone marrow or splenic aspirates. The smears are stained in Leishman, Giemsa or Wright stains and examined under oil immersion microscope.
 
Treatment
Sodium stibogluconate, a pentavalent antimonial compound, is the drug of choice in the treatment of visceral leishmaniasis except for in Europe and Sbv-unresponsive regions of India.
 
Additional Resource
  1. Vidyashankar C (2011). Pediatric Leishmaniasis. [online] Available from http://www.emedicine.com/ped/TOPIC1292.HTM [Accessed April, 2012].
 
74. AMINOPTERIN-INDUCED SYNDROME
 
General
Teratogenic effect of aminopterin and derivatives on fetus; present at birth; usually fetal or postnatal death.
 
Ocular
Hypertelorism
 
Clinical
Small body; microcephaly; hypoplasia of cranial bones; broad nasal bridge; micrognathia; cleft palate; low-set ears; mesomelic; hypodactyly; talipes equinovarus.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
None
 
Additional Resource
  1. Draper JC (2011). Teratology and Drug Use During Pregnancy. [online] Available from http://www.emedicine.com/med/TOPIC3242.HTM [Accessed April, 2012].
 
75. AMNIOGENIC BAND SYNDROME (RING CONSTRICTION; STREETER DYSPLASIA)
 
General
Caused by fetus swallowing one or more of the free-floating strands that result from amniotic rupture; the tension of these strands intraorally and extraorally produces secondary tears and deformations; no hereditary factor known.
 
Ocular
Upward slant of palpebral fissures; bilateral upper and lower lid colobomas; telecanthus; bilateral corneal opacities; microphthalmos; strabismus; hypertelorism; epibulbar choristoma; unilateral chorioretinal defects or lacuna (rare).41
 
Clinical
Craniofacial and limb abnormalities.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Esotropia: Equalized vision with correct refractive error; surgery may be helpful in patient with diplopia.
 
Bibliography
  1. Braude LS, Miller M, Cuttone J, et al. Ocular abnormalities in the amniogenic band syndrome. Br J Ophthalmol. 1981;65:299–303.
  1. Hashemi K, Traboulsi EI, Chavis R, et al. Chorioretinal lacuna in the amniotic band syndrome. J Pediatr Ophthalmol Strabismus. 1991;28:238–9.
  1. Miller MT, Deutsch TA, Cronin C, et al. Amniotic bands as a cause of ocular anomalies. Am J Ophthalmol. 1987;104:270–9.
  1. Murata T, Hashimoto S, Ishibashi T, et al. A case of amniotic band syndrome with bilateral epibulbar choristoma. Br J Ophthalmol. 1992;76:685–7.
  1. Streeter GL. Focal deficiencies in fetal tissues and their relation to intrauterine amputation. Contrib Embryol Carney Inst. 1930;22:1–44.
 
76. AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION (PRIMARY SYSTEMIC AMYLOIDOSIS)
 
General
Autosomal recessive; primary amyloidosis differs from secondary by the mesodermal tissues being affected and nodular form of deposits; no preexisting medical condition; preferential involvement of mesenchymal tissues; variable staining of deposits.
 
Ocular
Conjunctivitis with deposits; corneal leukoma; waxy eyelid papules with purpura; proptosis; diplopia; decreased vision; ptosis; keratitis sicca; upper lid mass; tonic pupil; accommodative paresis; diffuse yellow conjunctival mass.
 
Clinical
Hyperplastic gingivitis, tongue, skin and muscles; lungs with icing-like coating; mental retardation; peripheral neuropathy; congestive heart failure; polyarthropathy; spontaneous, incidental purpura; macroglossia; bleeding diathesis; idiopathic carpal tunnel syndrome.
 
Laboratory
Echocardiography is valuable in the evaluation of amyloid heart disease. Doppler studies are useful and may show abnormal relaxation early in the course of the disease. Advanced involvement is characterized by restrictive hemodynamics.
 
Treatment
The treatment is often unsatisfactory. No reliable method for the accurate assessment of the total amount of amyloid in the body exists. The similarity with multiple myeloma suggests that chemotherapy may be useful. Using different regimens of intermittent oral melphalan and prednisone may also be useful.
 
Additional Resource
  1. Nyirady J (2011). Primary Systemic Amyloidosis. [online] Available from http://www.emedicine.com/derm/TOPIC19.HTM [Accessed April, 2012].42
 
77. ANDERSEN-WARBURG SYNDROME (ATROPHIA OCULI CONGENITAL FETAL IRITIS SYNDROME; CONGENITAL PROGRESSIVE OCULO-ACOUSTICO-CEREBRAL DYSPLASIA; NORRIE DISEASE; OLIGOPHRENIA MICROPHTHALMOS SYNDROME; WHITNALL-NORMAN SYNDROME)
 
General
Sex-linked inheritance; gross deformation of both eyes; only males affected; onset at birth; putative gene for Norrie disease has been isolated and mapped to Xp11.3.
 
Ocular
Bilateral microphthalmos with extensive destruction of all ocular structures often resembling a pseudotumor; blindness at birth; iris atrophy; iritis; corneal opacification and lenticular destruction with a mass visible behind the lens as long as the lens is still clear; malformed retina and choroid with retinal pseudotumors; retinal detachment; retrolental vascular mass.
 
Clinical
Mental retardation ranging from imbecility to idiocy (may begin at any age) in about two-thirds of cases; deafness of differing severity with onset between the ages of 9 and 45 years.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Topical treatment for iritis, retinal detachment surgery and vitrectomy may be neccesary. Immediate laser treatment is recommended following birth.
 
Bibliography
  1. Andersen SR, Warburg M. Norrie's disease: congenital bilateral pseudotumor of retina with recessive X-chromosomal inheritance; preliminary report. Arch Ophthalmol. 1961;66:614–8.
  1. Black G, Redmond RM. The molecular biology of Norrie's disease. Eye (Lond). 1994;8(Pt 5):491–6.
  1. Chow CC, Kiernan DF, Chau FY, et al. Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis. Ophthalmology. 2010;117:2402–6.
  1. Enyedi LB, de Juan. E, Gaitan A. Ultrastructural study of Norrie's disease. Am J Ophthalmol. 1991;111:439–45.
  1. Liberfarb RM, Eavey RD, De Long. GR, et al. Norrie's disease: a study of two families. Ophthalmology. 1985;92:1445–51.
  1. Norrie G. Causes of blindness in children. Twenty-five years' experience of Danish Institutes for the Blind. Acta Ophthalmol (Copenh). 1927;5:357–86.
  1. Warburg M. Norrie's disease: differential diagnosis and treatment. Acta Ophthalmol (Copenh). 1975;53:217–36.
  1. Wong F, Goldberg MF, Hao Y. Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. Arch Ophthalmol. 1993;111:1553–7.43
 
78. ANDOGSKY SYNDROME (ATOPIC CATARACT SYNDROME; DERMATOGENOUS CATARACT)
 
General
Inherited abnormality involving the skin and lens with an altered reactivity to antigen.
 
Ocular
Atopic keratoconjunctivitis; keratoconus; uveitis; dense subcapsular cataract developing to a complete dense opacification.
 
Clinical
Atopic dermatitis as erythematous thickening of the skin with papular hyperpigmented and scaly changes, most frequently found in regions of the wrist, popliteal fossa, neck and sometimes forehead.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Uveitis: Topical steroids and cycloplegic medication should be the initial treatment of choice. Oral steroids if not responsive to topical steroids, immunosuppressants if bilateral disease that does not respond to oral steroids, periocular steroids for unilateral or posterior uveitis. Vitrectomy can be used for severe vitreous opacification. Cryotherapy and laser photocoagulation may be used for localized pars plana exudates.
Cataract: It can be treated by a change in glasses which can sometimes improve a patient's visual function temporarily; however, the most common treatment is cataract surgery.
 
Bibliography
  1. Andogsky N. Cataracts dermatogenes. Ein beitrag zur aetiologieder linsentrubung. Klin monatsbl Augennheilk. 1914;52:824.
  1. Coles RS, Laval J. Retinal detachments occurring in cataract associated with neurodermatitis. AMA Arch Ophthalmol. 1952;48:30–9.
  1. Geeraets WJ. Ocular Syndromes, 3rd edition. Lea & Febiger;  Philadelphia:  1976.
  1. Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd edition. JB Lippincott;  Philadelphia:  1981.
 
79. ANEMIA
 
General
Ocular complications generally only seen in severe anemia.
 
Ocular
Palpebral conjunctival pallor; retinal hemorrhages; cotton-wool spots; retinal vein dilation; papilledema; ischemic optic neuropathy.
 
Clinical
Blood loss; excessive red blood cell destruction; inadequate red blood cell production; thrombocytopenia; leukemia.
 
Laboratory
Complete blood count (CBC), reticulocyte count and review of the peripheral smear.44
 
Treatment
Medical care consists of establishing the diagnosis and reason for the iron deficiency. In most patients, the iron deficiency should be treated with oral iron therapy, and the underlying etiology should be corrected so the deficiency does not recur.
 
Additional Resource
  1. Inoue S (2011). Pediatric Acute Anemia. [online] Available from http://www.emedicine.com/ped/TOPIC98.HTM [Accessed April, 2012].
 
80. ANENCEPHALY
 
General
Congenital neural tube defect that affects the formation of the brain and skull bones. Lethal in all cases.
 
Ocular
Anophthalmos
 
Clinical
Absence of bony covering over the back of the head, cleft palate, heart defects.
 
Laboratory
Flattened head may be detected by prenatal ultrasound. Alpha-fetoprotein levels are elevated and can be detected in the amniotic fluid. Amniocentesis can be used to determine the chromosomal and genetic disorder.
 
Treatment
There is no treatment. Grief and genetic counseling should be offered to the parents.
 
Additional Resource
  1. Best RG (2011). Anencephaly. [online] Available from http://www.emedicine.medscape.com/article/1181570-overview [Accessed April, 2012].
 
81. ANGELUCCI SYNDROME (CRITICAL ALLERGIC CONJUNCTIVITIS SYNDROME)
 
General
Etiology unknown; pruriginous cutaneous and mucous reactions that appear and cease rather suddenly.
 
Ocular
Chemosis; conjunctivitis (papillary type); severe itching and burning; photophobia.
 
Clinical
Tachycardia; vasomotor lability; excitability; allergies (asthma, urticaria, edema); dystrophic conditions and endocrine disorders are frequently associated findings.
 
Laboratory
Diagnosis is made by clinical findings.45
 
Treatment
Symptomatic control may include cold compresses and artificial tears; nonsteroidal and occasionally steroidal drops to relieve itching.
 
Bibliography
  1. Angelucci A. Di una Sindrome Sconoscita Negli Infermi di Cattarro Primaverile. Arch Ottal Palermo. 1897– 1898;4:270.
  1. Geeraets WJ. Ocular Syndromes, 3rd edition. Lea & Febiger;  Philadelphia:  1976.
  1. Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd edition. JB Lippincott;  Philadelphia:  1981.
 
82. ANGIONEUROTIC EDEMA (GIANT EDEMA; GIANT URTICARIA; HIVES; NETTLE RASH; QUINCKE DISEASE)
 
General
Vascular reaction involving subcutaneous tissues or submucosa; both sexes affected; allergy to various agents, including medications; emotional factor may be involved; recurrent.
 
Ocular
Optic neuritis; papilledema; central serous retinopathy; corneal edema; exophthalmos; nystagmus; secondary glaucoma; uveitis; periorbital and lid edema.
 
Clinical
Transient erythema; angioneurotic edema of loose subcutaneous tissue; sporadic urticaria; nausea; vomiting; diarrhea; cephalalgia; severe respiratory distress; polyuria.
 
Laboratory
Plasma levels for the diagnosis include the following: C4 level less than 104 mg/L (diagnostic).
 
Treatment
The goal is to prevent episodes of swelling. Minor episodes of subepithelial swelling need no treatment, but the patient with edema of the face and neck should be closely observed for spread of edema and signs of airway involvement. When hoarseness or other signs of a compromised airway occur, an otolaryngologist should be consulted for possible tracheostomy.
 
Additional Resource
  1. Shih-Wen Huang (2012). Pediatric Angioedema. [online] Available from http://www.emedicine.com/ped/TOPIC101.HTM [Accessed April, 2012].
 
83. ANGIOID STREAKS
 
General
Irregular, jagged lines that radiate from the optic nerve in all directions.
 
Clinical
Paget's disease, sickle cell anemia, hypertensive cardiovascular disorders.46
 
Ocular
Choroidal neovascularization, retinal pigment epithelial detachment and macular degeneration.
 
Laboratory
Fluorescein angiography and indocyanine green angiography.
 
Treatment
Laser photocoagulation may be of benefit with juxtafoveal choroidal neovascularization associated with angioid streaks. Avastin injections have shown some promise for the control of choroidal neovascular membrane.
 
Additional Resource
  1. Abusamak M (2011). Angioid Streaks. [online] Available from http://www.emedicine.com/oph/TOPIC378.HTM [Accessed April, 2012].
 
84. ANGLE RECESSION GLAUCOMA
 
General
Manifestation of blunt ocular trauma.
 
Clinical
None
 
Ocular
Angle recession involves rupture of the face of the ciliary body, resulting in a tear between the longitudinal and circular fibers of the ciliary muscle, which may cause glaucoma.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Topical steroids with cycloplegic agents for inflammation. Antiglaucoma agents for IOP control. Surgical-filtration surgery with the use of antimetabolites appears to be the most effective technique.
 
Additional Resource
  1. Sullivan BR (2010). Glaucoma, Angle Recession. [online] Available from http://www.emedicine.com/oph/TOPIC121.HTM [Accessed April, 2012].
 
85. ANGULAR CONJUNCTIVITIS (MORAX-AXENFELD BACILLUS)
 
General
Caused by Moraxella lacunata, which frequently inhabits the nose.
 
Ocular
Conjunctivitis; hypopyon; keratitis; uveitis; corneal marginal ulcer.
 
Laboratory
Diagnosis is made by clinical findings.
 
Treatment
Conjunctivitis: Antibiotic medication should be used to treat the infection.47
Corneal ulcer: Corneal cultures may be taken and treatment initiated. Treatment includes a broad spectrum of antibiotics and cycloplegic drops.
Uveitis: Topical steroids and cycloplegic medication should be the initial treatment of choice. Oral steroids if not responsive to topical steroids, immunosuppressants if bilateral disease that does not respond to oral steroids, periocular steroids for unilateral or posterior uveitis. Vitrectomy can be used for severe vitreous opacification. Cryotherapy and laser photocoagulation may be used for localized pars plana exudates.
 
Bibliography
  1. Jones DB. Early diagnosis and therapy of bacterial corneal ulcers. Int Ophthalmol Clin. 1973;13:1–29.
  1. Marioneaux SJ, Cohen EJ, Arentsen JJ, et al. Moraxella keratitis. Cornea. 1991;10:21–4.
  1. Van Bijsterveld OP. Bacterial proteases in Moraxella angular conjunctivitis. Am J Ophthalmol. 1971; 72:181–4.
 
86. ANIRIDIA (CONGENITAL ANIRIDIA, HEREDITARY ANIRIDIA)
 
General
Hereditary, recessive (two-thirds of cases), can be dominant, sporadic or traumatic; absence of the iris; rare; usually bilateral unless due to trauma.
 
Ocular
Absence of iris; subluxed lens; iridodialysis; cataract; glaucoma; corneal scarring, vascularization and edema; iris colobomata; round eccentric pupils; keratoconus.
 
Clinical
Cerebellar ataxia; mental retardation; Wilms tumor.
 
Laboratory
Chromosomal deletion, cytogenic analysis, submicroscopic deletions of Wilms' tumor gene with FISH technique, PCR genotyping halotypes across PAX6-WT1 region provides evidence of a chromosomal deletion.
 
Treatment
Systemic or topical antiglaucoma therapy.
 
Bibliography
  1. Francois J, Coucke D, Coppieters R. Aniridia-Wilms' tumour syndrome. Ophthalmologica. 1977;174:35–9.
  1. Johns KJ, O'Day DM. Posterior chamber intraocular lenses after extracapsular extraction in patients with aniridia. Ophthalmology. 1991;98:1698–702.
  1. Kremer I, Rajpal RK, Rapuano CJ, et al. Results of penetrating keratoplasty in aniridia. Am J Ophthalmol. 1993;115:317–20.
  1. Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd edition. JB Lippincott;  Philadelphia:  1981.
  1. Mintz-Hittner HA, Ferrell RE, Lyons LA, et al. Criteria to detect minimal expressivity within families with autosomal dominant aniridia. Am J Ophthalmol. 1992;114:700–7.
  1. Nelson LB, Spaeth GL, Nowinski TS, et al. Aniridia. A review. Surv Ophthalmol. 1984;28:621–42.48
 
87. ANIRIDIA AND ABSENT PATELLA
 
General
Autosomal dominant; rare.
 
Ocular
Absence of iris; cataracts; glaucoma.
 
Clinical
Absence of knee cap, hypoplastic or aplastic.
 
Laboratory
Chromosomal deletion is detected by cytogenetic testing with the use of high-resolution banding.
 
Treatment
The goal is directed toward control of intraocular pressure with the use of topical drops. Frequently, this goal is not met. Photophobia can be treated with tinted glasses. Strabismus, amblyopia, refractive errors and nystagmus may also require treatment with traditional methods.
 
Additional Resource
  1. Singh D (2010). Aniridia. [online] Available from http://www.emedicine.com/oph/TOPIC43.HTM [Accessed April, 2012].
 
88. ANIRIDIA, CEREBELLAR ATAXIA AND MENTAL DEFICIENCY (GILLESPIE SYNDROME)
 
General
Autosomal recessive; onset at birth.
 
Ocular
Congenital cataracts; incomplete formation of iris; bilateral congenital mydriasis.
 
Clinical
Cerebellar ataxia; mental deficiency; delayed developmental milestones; persistent hypotonia of muscles; gross incoordination; attention tremor; scanning speech.
 
Laboratory
Chromosomal deletion is detected by cytogenetic testing with the use of high-resolution banding.
 
Treatment
The goal is directed toward control of intraocular pressure with the use of topical drops. Frequently, this goal is not met. Photophobia can be treated with tinted glasses. Strabismus, amblyopia, refractive errors and nystagmus may also require treatment with traditional methods.
 
Additional Resource
  1. Singh D (2010). Aniridia. [online] Available from http://www.emedicine.com/oph/TOPIC43.HTM [Accessed April, 2012].49
 
89. ANIRIDIA, PARTIAL WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION
 
General
Autosomal recessive.
 
Ocular
Congenital glaucoma; telecanthus; absence of iris; hypertelorism.
 
Clinical
One kidney absent or in failure; motor effects of cerebral or psychic activity retarded or slowed.
 
Laboratory
Chromosomal deletion is detected by cytogenetic testing with the use of high-resolution banding.