(Contributor: Jesse Vislisel, MD) Fabry disease is an X-linked dominant sphingolipidosis caused by a deficiency in alpha-galactosidase A which results in accumulation of ceramide trihexoside in select body tissues. Ocular findings include cornea verticillata, conjunctival aneurysms, cataracts, retinal vascular changes and optic atrophy.
(Contributor: Jeffrey D. Welder, MD) 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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