Competing/conflicts of interest: No stated conflict of interest.
Genomics and anterior segment dysgenesis: a review
Article first published online: 29 JUL 2013
© 2013 Royal Australian and New Zealand College of Ophthalmologists
Clinical & Experimental Ophthalmology
Volume 42, Issue 1, pages 13–24, January/February 2014
How to Cite
Ito, Y. A. and Walter, M. A. (2014), Genomics and anterior segment dysgenesis: a review. Clinical & Experimental Ophthalmology, 42: 13–24. doi: 10.1111/ceo.12152
Funding sources: Y.A.I. is supported by the Sir Frederick Banting and Dr. Charles Best Canada Graduate Scholarship provided by the Canadian Institutes of Health Research.
- Issue published online: 17 JAN 2014
- Article first published online: 29 JUL 2013
- Manuscript Accepted: 5 MAY 2013
- Manuscript Received: 20 APR 2013
- Canadian Institutes of Health Research
- Axenfeld–Rieger syndrome;
- genome-wide association;
- linkage analysis;
- Peters anomaly;
- phenotypic and genotypic heterogeneity
Anterior segment dysgenesis refers to a spectrum of disorders affecting structures in the anterior segment of the eye including the iris, cornea and trabecular meshwork. Approximately 50% of patients with anterior segment dysgenesis develop glaucoma. Traditional genetic methods using linkage analysis and family-based studies have identified numerous disease-causing genes such as PAX6, FOXC1 and PITX2. Despite these advances, phenotypic and genotypic heterogeneity pose continuing challenges to understand the mechanisms underlying the complexity of anterior segment dysgenesis disorders. Genomic methods, such as genome-wide association studies, are potentially an effective tool to understand anterior segment dysgenesis and the individual susceptibility to the development of glaucoma. In this review, we provide the rationale, as well as the challenges, to utilizing genomic methods to examine anterior segment dysgenesis disorders.