CEP41 and Leber congenital amaurosis: In a third sporadic LCA consanguineous patient (RP-2273, Table 1), an extremely rare missense variant, p.(Ser2Phe), was homozygously found in CEP41. This change affects a highly conserved residue in the N-terminal domain of the ciliary protein CEP41 and was predicted as damaging by in silico analysis (Supplementary Table S3).