Further, IDH3A variants have been reported in two additional cases, one affected with LCA accompanied by macular pseudocoloboma [10], and the other with autosomal recessive RP with dark adaptation problems since the age of 5 years, a diagnosis of RP at 28 years, and severe peripheral and central retinal degeneration including the posterior pole at 46 years [7]. Here, IDH3A is linked to Leber congenital amaurosis.