In two cases the molecular results allowed a refined clinical diagnosis: a compound heterozygosity of two mutations in CEP290 led to a genetic diagnosis of LCA in a patient with initial diagnosis of North Carolina or Stargardt macular dystrophy, whereas a homozygous pathogenic variant in ABCA4 was found in a patient with tapetoretinal degeneration. This evidence concerns the gene ABCA4 and Leber congenital amaurosis.