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
Figure 2.
Contributor: Jeffrey D. Welder, M.D.
Cornea verticillata in a patient with known Fabry disease.
Figure 3.
Skin angiokeratoma in the patient with corneal findings shown in Figure 2.
Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.