Abstract

Genetic implications of eye diseases – What every ophthalmologist should know?

The Global Eye Genetics Consortium is an international organisation with spreading knowledge and
awareness about genetic eye disorders as one of its key goals. Whether we realise it or not, nearly
half of the patients we see in our clinic are affected with a disorder which has a direct or indirect
genetic implication. The eye is the second most common organ after brain to be affected by genetic
disease. They may be single gene disorder like retinitis pigmentosa or pediatric cataract or
multifactorial disorder like myopia or diabetic retinopathy. Often there are systemic implications of
genetic disorders requiring referral to other subspecialities. The clinical and molecular diagnosis of
genetic disorders is improving at a fast pace. The modalities of understanding the pathogenesis and
the avenues of treatment of these disorders via gene therapy are increasing day by day. It is
imperative that an ophthalmologist is aware of the genetic basis of the common and uncommon eye
conditions to make a precise diagnosis, appropriate and timely referral, perform genetic counselling,
advise genetic testing and manage accordingly.