Autosomal recessive homozygous and compound heterozygous disease-causing variants in RPE65 have been well described and account for ~16% of individuals with LCA or EOSRD, and variants occur less frequently, at ~2%, in individuals with retinitis pigmentosa (OMIM: #18600) [4, 5]. Here, RPE65 is linked to Leber congenital amaurosis.