Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies

Carolien Aerts, Christophe De Keyser & Anita Leys
Objective: Case report of a patient with angioid streaks, peau d’orange, comet tail lesions, choroidal neovascularisation and presumed pseudoxanthoma elasticum (PXE). PXE was confirmed by gene analysis but not by skin biopsies. Methods: Case report of a patient with angioid streaks identified at age 21 and follow-up till age 43 with repeated fluorescein angiography (FA) and optical coherence tomography (OCT). Dermatologic examination, skin biopsies and genetical analysis performed to confirm suspected diagnosis of PXE. Results:...