[Skip to Content]
[Skip to Content Landing]
June 1987

Fundal Findings in a Female Carrier of X-linked Ocular Albinism

Arch Ophthalmol. 1987;105(6):750-751. doi:10.1001/archopht.1987.01060060036019

To the Editor.  —Detection of female carriers of X-linked genetic disorders is essential for proper diagnosis and genetic counseling. In ocular albinism, iris transillumination defects, fundal changes, electrophysiological testing, and skin biopsy to detect macromelanosomes can complement the search for the carrier state.1-4 The characteristic fundal changes in female heterozygotes rarely have been described. We present the first documentation, to our knowledge, of fluorescein angiographic findings in a carrier of ocular albinism.

Report of a Case.  —A 15-year-old white female adolescent presented with a decrease in vision of the left eye of a few days' duration. Examination revealed visual acuities of 20/20 in the right eye and 20/100 in the left eye; this latter acuity improved to 20/40 with hyperopic astigmatic correction. There was no iris transillumination. Funduscopy of each eye revealed a stippled macula and patchy pigmentation of the retinal pigment epithelium anterior to the arcades (Figs 1