Journal of American Association for Pediatric Ophthalmology and Strabismus 2013-02-01

Congenital glaucoma with acquired peripheral circumferential iris degeneration.

Arif O Khan, Mohammed A Aldahmesh, Jawahir Y Mohamed, Fowzan S Alkuraya

文献索引：J. AAPOS 17(1) , 105-7, (2013)

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摘要

Iris anomalies associated with congenital or early-childhood glaucoma include stable primary developmental abnormalities such as those associated with the Axenfeld-Rieger spectrum and aniridia. Secondary generalized iris atrophy from uncontrolled intraocular pressure is another potential iris finding in pediatric glaucoma. We document an unusual pattern of acquired peripheral circumferential iris degeneration in 2 unrelated children with otherwise-controlled congenital glaucoma. Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.