Chapter-32 Hereditary Vitreoretinal Diseases

BOOK TITLE: Clinical Ophthalmology: Medical and Surgical Approach

1. Sen Parveen
2. Priya R
3. Manju J
Publishing Year
Author Affiliations
1. Sankara Nethralaya, Medical and Vision Research Foundation Chennai, India, Sankara Nethralaya Chennai, Tamil Nadu, India, Sankara Nethralaya, Chennai, India, Sankara Nethralaya, Shri Bhagwan Mahavir, Vitreoretinal Services, Chennai, Tamil Nadu, India
2. Sankara Nethralaya, Chennai, Tamil Nadu, India
3. Sankara Nethralaya, Chennai, Tamil Nadu, India
Chapter keywords


Hereditary retinal degenerations are familial, bilaterally symmetrical disorders of the retina. The varied morphological picture in all these disorders is governed by the specific underlying genetic defect. Though the genetic defect is present at birth, the typical clinical picture is manifested at various stages of life in different disorders. These are diagnosed with the help of relevant history and clinical examination coupled with various investigations, including electrodiagnostic tests, fundus fluorescein angiogram, optical coherence tomography and color vision with field evaluation. A morphological classification of these hereditary disorders is usually done depending upon the histological layer of the retina primarily involved. (i) Nerve fiber layer: X-linked juvenile retinoschisis and (ii) Photoreceptor layer. X-linked retinoschisis is a hereditary, vitreoretinal degeneration that is one of the most common causes of juvenile macular degeneration in males. The disease was first described in 1898 by Haas. Retinitis pigmentosa is a hereditary disorder, which may present as an autosomal recessive/autosomal dominant/sporadic inheritance pattern. X-Linked inheritance is the least common. The severity and the presenting features of the disease vary depending upon the inheritance pattern.

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