To date, nearly 200 disease-causing mutations in the RPE65 gene have been reported (Human Gene Mutation Database (HGMD); professional version 2019.2), which are associated with a large heterogeneous group of retinal dystrophies, including Leber congenital amaurosis (LCA) type 2, early onset severe retinal dystrophy, retinitis pigmentosa (RP) type 20 and fundus albipunctatus (FAP). Here, RPE65 is linked to Leber congenital amaurosis.