X-linked ocular albinism. An oculocutaneous macromelanosomal disorder

Abstract

Three unrelated kindreds with the Nettleship-Falls type of X-linked ocular albinism were studied. Postmortem examination of the eyes of an affected man revealed the presence of macromelanosomes in the pigment epithelia. Skin biopsy specimens of this patient, seven other affected male, and nine carrier female kindred members revealed the presence of Fontana-positive and dopa oxidase-positive macromelanosomes within the epidermis and dermis. Although clinically this disorder has been considered to be a form of albinism confined to the eyes, these findings indicate that an unusual disturbance in melanosome production characterized by macromelanosome formation affects the skin and the eyes. Histopathologic study of the skin is a useful adjunct in the diagnosis of X-linked ocular albinism, both in the affected and the carrier states. Linkage studies confirmed the close association of the Xg blood group with this disorder.