Inherited Retinal Diseases (IRDs) and the Role of Genetic Testing – Dr N Soumittra
Overview
In this video, Dr. N. Soumittra, Disease Head – Ophthalmology at MedGenome, discusses Inherited Retinal Diseases (IRDs), a group of genetic disorders that affect the retina and are a major cause of vision loss and blindness, particularly among adults of working age.
With over 15 years of experience in ophthalmic genetics, Dr. Soumittra provides valuable insights into:
What IRDs are, including common types like Retinitis Pigmentosa, Stargardt disease, and Leber congenital amaurosis
How IRDs are diagnosed – through clinical evaluation, imaging, and genetic testing
Why genetic testing is crucial – for confirming diagnosis, guiding treatment decisions, identifying risk in family members, and enabling access to gene-based clinical trials and therapies
This video serves as an educational resource for ophthalmologists, genetic counsellors, patients, and caregivers who want to understand better the role of genetics in managing inherited eye conditions.