Among the patients with the clinical diagnosis of LCA, ~50% of cases were caused by variants in CEP290 (28%; 15/56) and RPE65 (23%; 12/56), while variants in other genes were much less frequent (CRB1 11%, AIPL1 11%, IQCB1 7.5%, and RDH12 7.5%, and sporadically LRAT, NMNAT1, CRX, RD3, and RPGRIP1). The gene discussed is CEP290; the disease is Leber congenital amaurosis.