University of Iowa Health Care

Ophthalmology and Visual Sciences

EyeRounds Photo Quiz #3

Compiled by Tyler Risma, MD


right eye:

Fabry Disease, right eye

left eye:

appearance of skin

Q15: What corneal finding is present?

A15: Corneal verticillata

Q16: What is the name of the skin finding, and what diagnosis is likely?

A16: Skin angiokeratoma.  The most likely diagnosis is Fabry disease, which is an x-linked dominant condition caused by a deficiency in alpha galactosidase leading to glycolipid accumulation in blood vessels and other tissues. Verticillata are also seen in patients on amiodarone, chloroquine, hydroxychloroquine, indomethacin or phenothiazines.

See Verticillata case

Q17: What other ocular findings might you find in a patient with this diagnosis?

A17: Conjunctival aneurysms, cataracts, retinal vascular changes, optic atrophy.

last updated: 05/05/2015
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