RPE65 and Leber congenital amaurosis: Patients with pathogenic variants in the RPE65 gene have been presented with autosomal recessive RP, fundus albipunctatus, cone-rod dystrophy, and, most frequently, Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) (LCA2, OMIM # 204100) [111].