In addition to this, pathogenic mutations in the PRPH2 gene also lead to variable phenotypes including RP, cone dystrophy, cone-rod dystrophy, macular dystrophy, LCA, and retinopathies including pattern dystrophy, vitelliform macular dystrophy, and central areolar choroidal dystrophy (CACD), even in patients belonging to the same family [24,25,26]. This evidence concerns the gene PRPH2 and Leber congenital amaurosis.