Despite being an ultra-rare condition, with an estimated prevalence of 1:300,000 affected individuals [3], the spectrum of phenotypes correlated to biallelic RPE65 mutation is variable and associated, not only with LCA, but also with less severe diseases such as early onset severe retinal dystrophy (EOSRD), severe early childhood onset retinal dystrophy (SECORD), early onset retinitis pigmentosa (EORD) and, in very rare cases, congenital stationary night blindness (CSNB) [4–7]. This evidence concerns the gene RPE65 and severe early-childhood-onset retinal dystrophy.