[A Japanese family of Nettleship Falls X-linked ocular albinism]

A family with Nettleship Falls X-linked ocular albinism (NFXOA) was reported. The funduscopic examination revealed that both the male proband case and his maternal male cousin with nystagmus and amblyopia had macular hypoplasia and slightly less pigmented fundus than normal Japanese, and the carrier female (proband's mother) had the characteristic pigmentary mosaicism of the fundus. The slitlamp biomicroscopic examination revealed that the proband case's iris was less pigmented and the carrier female had the normal coloured iris. Translucency was not found in the iris of either the proband case or the carrier female. Hypopigmented maculas were found on the skin of the proband case. Histopathological findings of the cutaneous tissue of both the proband case and the carrier female showed macromelanosomes in the epidermis. The diagnosis of NFXOA is considered to be difficult by ocular clinical signs in the case of Japanese male patients without both characteristic albinotic fundus and the mother's pigmentary mosaicism of the fundus. Macromelanosomes recognized by skin biopsy are helpful for diagnosis.