This clinical presentation may be due to X-linked ocular albinism (GPR143 gene defects [MIM 300500]), hypomorphic variants in genes associated with oculocutaneous albinism, variants in SLC38A8 (causing foveal hypoplasia and optic nerve decussation defects [MIM 609218]), or mild forms of HPS (e.g., HPS3 [MIM 614072], HPS5 [MIM 614074] and HPS6 [MIM 614075]).4 Of these three male probands, one had X-linked ocular albinism [MIM 300500] and two had partial oculocutaneous albinism. Here, GPR143 is linked to X-linked recessive ocular albinism.