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

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

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...

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Bibliographic Details
Main Authors: Aerts, Carolien, De Keyser, Christophe, Leys, Anita
Format: Article
Language:English
Published: German Medical Science GMS Publishing House 2011-01-01
Series:GMS Ophthalmology Cases
Subjects:
pseudoxanthoma elasticum
choroidal neovascularization
skin lesions
scar biopsy
gene analysis
mutation in ABCC6 gene
Online Access:http://www.egms.de/en/journals/oc/2011-1/oc000003.shtml

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