Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma

JOURNAL TITLE: Journal of Current Glaucoma Practice

Author
1. Muneeb Faiq
2. Tanuj Dada
3. Kuldeep Mohanty
ISSN
0974-0333
DOI
10.5005/jp-journals-10008-1133
Volume
7
Issue
1
Publishing Year
2013
Pages
11
Author Affiliations
    1. Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences New Delhi, India
    1. All India Institute of Medical Sciences, New Delhi, India
    1. Glaucoma Services, Dr RP Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India
  • Article keywords
    Primary congenital glaucoma, Molecular diagnostics, Genetics, Genetic counseling

    Abstract

    Primary congenital glaucoma (PCG) is a childhood irreversible blinding disorder with onset at birth or in the first year of life. It is characterized by the classical traid of symptoms viz. epiphora (excessive tearing), photophobia (hypersensitivity to light) and blepharospasm (inflammation of eyelids). The only anatomical defect seen in PCG is trabecular meshwork dysgenesis. PCG shows autosomal recessive mode of inheritance with considerable number of sporadic cases. The etiology of this disease has not been fully understood but some genes like CYP1B1, MYOC, FOXC1, LTBP2 have been implicated. Various chromosomal aberrations and mutations in mitochondrial genome have also been reported. Molecular biology has developed novel techniques in order to do genetic and biochemical characterization of many genetic disorders including PCG. Techniques like polymerase chain reaction, single strand conformational polymorphism and sequencing are already in use for diagnosis of PCG and other techniques like protein truncation testing and functional genomics are beginning to find their way into molecular workout of this disorder. In the light of its genetic etiology, it is important to develop methods for genetic counseling for the patients and their families so as to bring down its incidence. In this review, we ought to develop a genetic insight into PCG with possible use of molecular biology and functional genomics in understanding the disease etiology, pathogenesis, pathology and mechanism of inheritance. We will also discuss the possibilities and use of genetic counseling in this disease.

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