RPE65 and Leber congenital amaurosis: In December 2017, the United States Food and Drug Administration (FDA) approved the first ocular gene therapy product, voretigene neparvovec-rzyl (Luxturna), for patients with genetic variants in both copies (alleles) of the RPE65 gene, typically diagnosed as Leber congenital amaurosis (LCA) type 2 or severe early-onset retinitis pigmentosa (RP).The approval was based on the results of the phase 3 trial (NCT00999609) sponsored by Spark Therapeutics Inc. (Philadelphia, PA, USA), which utilized novel clinical endpoints suitable for the low-vision population.