University of Iowa Health Care

Ophthalmology and Visual Sciences

EyeRounds.org

Fabry Disease

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.

Figure 1

Cornea verticillata in a young female which led to the diagnosis of Fabry disease.

verticillata-358-Fabry


Figure 2.

Contributor: Jeffrey D. Welder, M.D.

Cornea verticillata in a patient with known Fabry disease.

right eye:

Fabry Disease, right eye

left eye:

Figure 3.

Skin angiokeratoma in the patient with corneal findings shown in Figure 2.

appearance of skin


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Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

last updated: 01/24/2016