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Dermatol Online J. 2008 May 15;14(5):4.

X-Linked ocular albinism; Nettleship-Falls ocular albinism.

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  • 1Department of Dermatology, New York University, USA.

Abstract

A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules. Macromelanosomes were demonstrated in normal skin on histopathologic examination. The patient's constellation of findings along with a strong X-linked inheritance pattern in family members led to the diagnosis of X-linked ocular albinism, which is an uncommon condition that is characterized by congenital nystagmus, iris translucency, hypopigmentation of the ocular fundus, strabismus, foveal hypoplasia, photophobia, and impaired vision.

PMID:
18627740
[PubMed - indexed for MEDLINE]
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