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Blink
What Is This Month's Mystery Condition?
Written by João Rosendo, MD, Hospital Espírito Santo EPE, Évora, Portugal.
Photo by Francisca Carragéis, Hospital Espírito Santo EPE, Évora, Portugal.
 
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March 2014 Blink

Ocular Albinism

A 65-year-old woman was referred to us by her general practitioner with complaints of photophobia and decreased visual acuity (BCVA: right eye, 20/400; left eye, 20/40). She reported no other symptoms. On external examination, she appeared to have noticeable but subtle lighter skin and hair color. Fundus observation revealed global hypopigmentation, with visualization of the choroidal vascular network and foveal hypoplasia with an absent foveal reflex.

Fluorescein angiography showed a lack of pigmentation in the retinal pigment epithelium, the failure of the retinal vasculature to surround the fovea, and the silhouette of medium and large choroidal vessels in contrast to the sclera. These findings are consistent with ocular albinism, a category of albinism that mainly affects the eyes, with minimal to no skin involvement.

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