Of note, a total of 34 LCA5 mutations have previously been reported, of which 30 mutations are implicated in the etiology of LCA, 3 in EORD, and one in RP (Supplementary Table S3)3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13. The gene discussed is LCA5; the disease is Leber congenital amaurosis.