X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
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.
D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000235:genetics*; D044383:Black People; D002648:Child; D002675:Child, Preschool; D005260:Female; D005584:Fovea Centralis / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000209:etiology; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics*; D012730:Sex Chromosomes; D012867:Skin / Q000473:pathology; D012880:Skin Pigmentation; D014481:United States; D014960:X Chromosome; D001741:Black or African American