EyeRounds Photo Quiz #3
Compiled by Tyler Risma, MD
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.
Q17: What other ocular findings might you find in a patient with this diagnosis?
A17: Conjunctival aneurysms, cataracts, retinal vascular changes, optic atrophy.