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