Vision Loss With No Diagnosis: Genetic Causes Your Eye Doctor Might Miss
Inherited retinal diseases affect over 2 million people worldwide and are often missed by standard eye exams. Gene therapy is now available.
Inherited Retinal Diseases
Over 270 genes are associated with inherited retinal diseases. They collectively affect more than 2 million people worldwide. Retinitis pigmentosa, Stargardt disease, cone-rod dystrophy, Usher syndrome, Leber congenital amaurosis, choroideremia, Best disease. Many progress so slowly that patients adapt without recognizing how much has changed.
Why It Matters Now More Than Ever
Luxturna (voretigene neparvovec): FDA-approved gene therapy for RPE65-associated retinal dystrophy. Delivers a functional gene copy directly to the retina. But you can only access it with a confirmed RPE65 mutation.
Dozens of clinical trials underway for other IRD genes including RPGR, CNGA3, CNGB3, RS1. Eligibility requires a confirmed genetic diagnosis. The era of "nothing can be done" for inherited retinal diseases is over.
The Personal Connection
The founder of this platform was diagnosed with a genetic eye condition at 17. His sister received the same diagnosis. That experience is the reason this project exists. The treatments are here or on the way. But they require knowing your gene.
You've waited long enough for answers
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Take the free screening ›This article is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare provider before making medical decisions.