,6 It has been reported that certain genes are more likely to be associated with LCA, such as GUCY2D, CEP290, NMNAT1, and AIPL1, while variants in other genes more frequently cause EOSRD, including RPE65 and RDH12. 2The genetic variability of LCA and the rarity of the condition make detailed phenotyping in a substantial molecularly confirmed cohort of patients challenging. The gene discussed is CEP290; the disease is Leber congenital amaurosis.