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Ophthalmology and Visual Sciences

Fabry Disease

Fabry Disease

Category(ies): Cornea
Contributor: Jeffrey D. Welder, M.D.

Corneal verticillata and skin angiokeratoma in a patient with Fabry disease. This x-linked dominant condition is caused by a deficiency in alpha galactosidase leading to glycolipid accumulation in blood vessels and other tissues. Other ocular findings include conjunctival aneurysms, cataracts, retinal vascular changes and optic atrophy.


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