Several patients were reclassified after genetic diagnosis: two patients homozygous for novel pathogenic variants in ALMS1, and one male patient carrying a novel pathogenic duplication in RPGR, c.736_745dupATCCAAGTAG; p.(Ala249AspfsTer37), were classified as Alström syndrome and RP-XL (Table 3), respectively. This evidence concerns the gene ALMS1 and Alstrom syndrome.