Variants in RDH12 (MIM 608830) have been associated with autosomal recessive (AR) early onset severe retinal dystrophy/Leber Congenital Amaurosis (EOSRD/LCA), cone/cone-rod dystrophy, retinitis pigmentosa (RP), and macular dystrophy (MD); and autosomal dominant (AD) RP (4). This evidence concerns the gene RDH12 and Leber congenital amaurosis.