Mutations in the genes for ADGRV1, MKKS/BBS6 and CCT2 are causative for severe syndromic retinopathies, namely USH2C, BBS, and MKKS (Sheffield, 2010; Slavotinek, 2020; Fuster-García et al., 2021) or non-syndromic retinal dystrophies such as Leber congenital amaurosis (LCA) (Minegishi et al., 2016; Weihbrecht et al., 2017). The gene discussed is MKKS; the disease is Leber congenital amaurosis.