Probands with an LCA phenotype (n = 57) were mostly genetically explained by pathogenic variants residing in CRB1 (14.5%), ABCA4 (12.7%), RPGRIP1 (9.1%), CEP290 (5.5%), GUCY2D (5.5%), RDH12 (5.5%) and TULP1 (5.5%) while those with an RD phenotype (n = 36) could be genetically explained by variants in 10 different genes (each in two cases) ABCA4, CRB1, EYS, GUCY2D, NRE2E3, PROM1, PRPH2, RLPBP1, TRPM1, and USH2A (all 3.6%). The gene discussed is ABCA4; the disease is Leber congenital amaurosis.