Inherited retinal disorders are rare, hereditary disorders caused by mutations in genes that encode proteins needed for normal retinal health and function. The first gene associated with retinitis pigmentosa was identified at Mass Eye and Ear in 1990, and since then, over 250 IRD-causing genes have been discovered. Genetic testing is now routinely used to identify the genetic cause of disease in nearly two-thirds of IRD patients. This information has value for understanding a patient’s condition, as well as risk to family members. It also provides a therapeutic target: If we know the specific molecular cause of disease, can we design a gene-specific intervention that prevents further retinal degeneration or even improves vision?
