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Complex genetics of complex traits: the case of primary open-angle glaucoma


Hewitt, AW and Craig, JE and Mackey, DA, Complex genetics of complex traits: the case of primary open-angle glaucoma, Clinical and Experimental Ophthalmology, 34, (5) pp. 472-484. ISSN 1442-6404 (2006) [Refereed Article]

DOI: doi:10.1111/j.1442-9071.2006.1268.x


Glaucoma, which is a complex heterogeneous disease, presents an ideal case for genetic investigation. Primary open-angle glaucoma (POAG) is the commonest subtype and will be the focus of this review. When detected early, POAG is amenable to therapeutic intervention. Unfortunately, current population-based clinical screening lacks efficacy. If individuals with a genetic predisposition for developing POAG can be identified, then efficient and cost-effective population-based screening programs could be designed. Although considerable inroads have been made in understanding the natural history of POAG caused by mutations in the myocilin and optineurin genes, other POAG genes accounting for most cases remain to be identified. This review explores the genetic mechanisms that have been unequivocally linked to the glaucomatous process and then discusses potential avenues for future breakthroughs.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:41591
Year Published:2006
Web of Science® Times Cited:61
Deposited By:Medicine
Deposited On:2006-08-01
Last Modified:2014-10-08

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