Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Antihypertensive Agents / therapeutic use
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Aryl Hydrocarbon Hydroxylases / genetics
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Cytochrome P-450 CYP1B1
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Drug Therapy, Combination
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Eye Abnormalities / complications*
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Eye Abnormalities / diagnosis
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Eye Abnormalities / genetics
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Female
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Forkhead Transcription Factors / genetics
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Humans
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Hydrophthalmos / diagnosis
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Hydrophthalmos / drug therapy
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Hydrophthalmos / etiology*
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Infant
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Intraocular Pressure / drug effects
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Iris / abnormalities*
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Point Mutation
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Sequence Deletion
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Sulfonamides / therapeutic use
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Thiophenes / therapeutic use
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Timolol / therapeutic use
Substances
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Antihypertensive Agents
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FOXC1 protein, human
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Forkhead Transcription Factors
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Sulfonamides
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Thiophenes
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Timolol
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dorzolamide
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Aryl Hydrocarbon Hydroxylases
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CYP1B1 protein, human
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Cytochrome P-450 CYP1B1