Fast Five Quiz: Management of Inherited Retinal Diseases

Donny W. Suh, MD, MBA; Raj K. Maturi, MD


March 31, 2023

RPE65 gene mutations have been identified in two IRDs: Leber congenital amaurosis and retinitis pigmentosa. In 2017, the US Food and Drug Administration approved the first gene therapy for the treatment of patients with confirmed RPE65 gene mutation–associated retinal dystrophy. Voretigene neparvovec-rzyl is an adeno-associated virus vector–based therapy that is administered by ocular subretinal injection. It has demonstrated improvement in various visual function markers: electroretinograms, pupillary light responses, and object avoidance behavior. In addition, clinical trials suggest that treatment can improve night vision and stop progression of vision loss.

According to epidemiologic studies, high doses of vitamin A may slow the progression of retinitis pigmentosa by about 2% per year. However, supplementation of vitamin A is not advised in patients with normal vitamin A levels owing to side effects.

The recommendation against the use of oral valproic acid outside of clinical trials followed prospective studies suggesting that worse visual field outcomes were observed in patients who received valproic acid compared with placebo.

Retinal implants have been used in patients with severe disease and very low visual acuity.

Learn more about IRDs.


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