Diagnosis and Management of Inherited Retinal Dystrophy

Dominik Fischer, MD, DPhil


June 03, 2021

Inherited retinal diseases (IRDs) are a group of rare disorders caused by genetic defects that lead to irreversible decline in vision and sometimes blindness.

Almost 300 genes known to cause IRDs have been mapped or identified, allowing for potential use of gene therapy, which did not exist a decade ago.

Dr Dominik Fischer, of the Eberhard Karls University of Tübingen, discusses groundbreaking research that has led to the first gene therapy, voretigene neparvovec, to be approved by the US Food and Drug Administration and the European Medicines Agency.

Fischer also reports on clinical trials that are further advancing the treatment of IRDs. The first investigates a therapy for X-linked retinitis pigmentosa, and the second examines gene therapy to treat X-linked choroideremia.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.