A multigene panel for oculocutaneous albinism, based on whole-exome sequencing and comprising 27 genes, identified a hemizygous pathogenic nonsense variant in the GPR143 gene (NM_000273.3:c.733C>T(p.(Arg245*), confirming the diagnosis of OA1 (Figure 4). The gene discussed is GPR143; the disease is X-linked recessive ocular albinism.