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Transcript
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LAST MONTH’S BLINK
j o ã o r o s e nd o , md , h o s p i ta l e s p í r i t o s a n t o e p e , é v o r a , p o r t u g a l
Ocular Albinism
Francisca Carragéis, Hospital Espírito Santo EPE,
Évora, Portugal
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 hypopigmenta-
tion, with visualization of the choroidal vascular network
and foveal hypoplasia with an absent foveal reflex.
Fluorescein angiography showed a lack of pigmenta-
tion 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.
Written by João Rosendo, MD, Hospital Espírito Santo
EPE, Évora, Portugal.
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