TY - JOUR
T1 - X-Linked Ocular Albinism
T2 - An Oculocutaneous Macromelanosomal Disorder
AU - O'donnell, Francis E.
AU - Hambrick, George W.
AU - Green, W. Richard
AU - Iliff, W. Jackson
AU - Stone, David L.
PY - 1976/11
Y1 - 1976/11
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0017027276&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017027276&partnerID=8YFLogxK
U2 - 10.1001/archopht.1976.03910040593001
DO - 10.1001/archopht.1976.03910040593001
M3 - Article
C2 - 985163
AN - SCOPUS:0017027276
SN - 0003-9950
VL - 94
SP - 1883
EP - 1892
JO - Archives of ophthalmology
JF - Archives of ophthalmology
IS - 11
ER -