Inherited Retinal Diseases: Early Signs and Advances in Treatment

Jacque Duncan, MD; Mark Pennesi, MD, PhD


May 11, 2023

The broad spectrum of inherited retinal diseases (IRDs) involves mutations in over 260 genes, many of which have been mapped over the past decade. IRDs can cause severe vision loss and even blindness and can be difficult to diagnose, according to Dr Mark Pennesi of Oregon Health & Science University and Dr Jacque Duncan of the University of California, San Francisco.

Red flags for the diagnosis of an IRD include poor vision in dimly lit areas, persistent vision problems despite glasses, and a family history of the disease. However, IRDs can be carried recessively, often making family members unaware of their increased risk.

Drs Pennesi and Duncan note that the first therapy for an IRD was approved in 2017. They comment that voretigene neparvovec, a gene replacement therapy for patients who have two mutations in the RPE65 gene, has been shown to improve vision, not just slow down degeneration. Although this therapy benefits very few patients (about 0.05% of those with IRDs), its success has generated excitement in the research community to explore other genetic pathways; dozens of clinical trials are currently underway in search of treatments for other IRDs.

The panelists stress the importance of encouraging patients to get genetic testing to determine their underlying genetic mutations, and, wherever possible, enroll in clinical trials to help develop additional IRD therapies.


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