As an example, Minegishi and colleagues decided to confirm the involvement of the CCT2 gene in LCA [78], suspected due to identification of the compound heterozygous mutations p.Thr400Pro and p.Arg513Hisby whole exome sequencing (WES) in the affected members of a sole Chinese consanguineous family [55]. This evidence concerns the gene CCT2 and Leber congenital amaurosis.