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Ophthalmology and Visual Sciences

Fabry Disease

Fabry Disease

Category(ies): Cornea
Contributors: Jesse Vislisel, MD; Jeffrey D. Welder, M.D.

(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.

Cornea verticillata - Fabry Disease
Figure 1: Cornea verticillata in a young female which led to the diagnosis of Fabry disease.

Contributor: Jesse Vislisel, MD

Cornea verticillata - Fabry Disease
Figure 2: Cornea verticillata in a patient with known Fabry disease.
Right Eye

Contributor: Jeffrey D. Welder, M.D.

Cornea verticillata - Fabry Disease
Figure 2: Cornea verticillata in a patient with known Fabry disease.
Left Eye

Contributor: Jeffrey D. Welder, M.D.

Skin angiokeratoma - Fabry Disease
Figure 3: Skin angiokeratoma in the patient with corneal findings shown in Figure 2.
Appearence of skin

Contributor: Jesse Vislisel, MD