Ocular Genomics

A Clear Vision for Your Genetic Health

The eye is the second individual organ to have a high frequency of involvement in genetic disorders. Worldwide, one in 1000 people get affected by Genetic Eye Disease (GED). There are more than 500 specific Mendelian genetic eye disorders. Genetic etiology is the reason behind almost 50% of the pediatric blindness. GED being one of the leading causes of blindness, affects individuals of all ages and encompass a broad spectrum of disease including developmental eye defects, corneal and retinal dystrophies and hereditary optic neuropathies (both nonsyndromic and syndromic forms). These rare diseases can affect all parts of the eye including the adnexa, ocular muscles, anterior chamber and posterior segment. They can be isolated, only affecting the eye, or found in association with systemic features, forming part of a syndrome. In developed countries, Inherited eye diseases (IED) are one of the most common causes for childhood and young adulthood blindness.

Ocular genetic disorders are a significant concern in India, affecting individuals of all ages and backgrounds. According to the All India Institute of Medical Sciences (AIIMS), approximately 30% to 40% of all blindness cases in India are attributed to genetic factors. Conditions such as retinitis pigmentosa, congenital cataracts, glaucoma, and hereditary optic neuropathies are among the most prevalent ocular genetic disorders observed in the Indian population.