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Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma

Citation

Balaratnasingam, C and Morgan, WH and Nelson, J and Mackey, DA and Dimasi, DP and Lam, G, Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma, Ophthalmic Genetics, 28, (3) pp. 157-162. ISSN 1381-6810 (2007) [Refereed Article]

DOI: doi:10.1080/13816810701503715

Abstract

Purpose: To report the presence of dense and abnormal iris processes in the unaffected parents and sibling of a non consanguineous family where 3 children out of 4 suffer from primary infantile glaucoma (PIG). Methods: A descriptive case report. All family members were clinically characterized. Candidate gene screening and chromosome analysis were also performed. Results: The 3 children with PIG displayed a spectrum of anterior chamber angle anomalies with the absence of posterior embryotoxon and iridotrabeculodysgenesis abnormalities. Unaffected family members had dense and abnormal iris processes but no features of glaucoma. Candidate gene screening and chromosome analysis were normal. Conclusion: Iris processes indicate angle maldevelopment and may signify carrier status of an autosomal recessive glaucoma gene. Identification of iris processes in relatives of PIG children is a useful clinical sign that may be of benefit for genetic counseling and risk stratification purposes. Copyright © Informa Healthcare USA, Inc.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
ID Code:50096
Year Published:2007
Deposited By:Medicine (Discipline)
Deposited On:2007-08-01
Last Modified:2009-11-19
Downloads:0

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