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Complex genetics of complex traits: the case of primary open-angle glaucoma
journal contribution
posted on 2023-05-16, 18:23 authored by Alexander HewittAlexander Hewitt, Craig, JE, David MackeyDavid MackeyGlaucoma, 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.
History
Publication title
Clinical and Experimental OphthalmologyVolume
34Issue
5Pagination
472-484ISSN
1442-6404Department/School
Tasmanian School of MedicinePublisher
Blackwell PublishingPlace of publication
Oxford, EnglandRepository Status
- Restricted