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Abstract #19806 Published in IGR 9-4
Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma
Balaratnasingam C; Morgan WH; Nelson J; Mackey DA; Dimasi DP; Lam GOphthalmic Genetics 2007; 28: 157-162
PURPOSE: To report the presence of dense and abnormal iris processes in the unaffected parents and sibling of a non consanguineous family where three children out of four 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 three 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.
Dr. C. Balaratnasingam, Department of Physiology and Pharmacology, Lions Eye Institute, University of Western Australia, 2 Verdun Street, Nedlands, WA 6009, Australia. balaratnasingam@gmail.com
Classification:
2.8 Iris (Part of: 2 Anatomical structures in glaucoma)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
