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Ocular Albinism Cum Pigmento

Francis E. O'Donnell, Jr, MD; W. Richard Green, MD; Jay A. Fleischman, MD; George W. Hambrick, MD

Arch Ophthalmol. 1978;96(7):1189-1192.

Abstract
• X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks. In this study, eight of ten black ocular albinos from two kindreds had nonalbinotic, moderately pigmented fundi and no transillumination of the iris. We refer to this paradoxical condition as "ocular albinism cum pigmento." The only constant ophthalmoscopic feature was a foveal hypoplasia. Biopsy of clinically normal skin to demonstrate giant pigment granules is the most accurate means of diagnosis.

Author Affiliations
From the Wilmer Ophthalmological Institute, Department of Pathology, Johns Hopkins Medical Institutions, Baltimore. Dr Hambrick is now with the Department of Dermatology, University of Cincinnati Medical Center.

Footnotes
Accepted for publication Nov 23, 1977.

Reprint requests to Eye Pathology Laboratory, Wilmer Institute, Johns Hopkins Hospital, Baltimore, MD 21205 (Dr Green).

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