X-Linked Ocular Albinism: An Oculocutaneous Macromelanosomal Disorder

Francis E. O'donnell, George W. Hambrick, W. Richard Green, W. Iliff, David L. Stone

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1883-1892
Number of pages10
JournalArchives of Ophthalmology
Volume94
Issue number11
DOIs
StatePublished - 1976

Fingerprint

Ocular Albinism
Skin
Albinism
Melanosomes
Carrier State
Monophenol Monooxygenase
Dermis
Blood Group Antigens
Epidermis
Autopsy
Epithelium
Biopsy

ASJC Scopus subject areas

  • Ophthalmology

Cite this

X-Linked Ocular Albinism : An Oculocutaneous Macromelanosomal Disorder. / O'donnell, Francis E.; Hambrick, George W.; Green, W. Richard; Iliff, W.; Stone, David L.

In: Archives of Ophthalmology, Vol. 94, No. 11, 1976, p. 1883-1892.

Research output: Contribution to journalArticle

O'donnell, Francis E. ; Hambrick, George W. ; Green, W. Richard ; Iliff, W. ; Stone, David L. / X-Linked Ocular Albinism : An Oculocutaneous Macromelanosomal Disorder. In: Archives of Ophthalmology. 1976 ; Vol. 94, No. 11. pp. 1883-1892.
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