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Review
. 2016 Jul 4:10:1229-35.
doi: 10.2147/OPTH.S109723. eCollection 2016.

Genetics and age-related macular degeneration: a practical review for the clinician

Stephen G Schwartz  1 , Blake M Hampton  1 , Jaclyn L Kovach  1 , Milam A Brantley Jr  2
Affiliations
Review

Genetics and age-related macular degeneration: a practical review for the clinician

Stephen G Schwartz et al. Clin Ophthalmol. .

Abstract

Age-related macular degeneration is a complex disease, with both genetic and environmental risk factors interacting in unknown ways. Currently, 52 gene variants within 34 loci have been significantly associated with age-related macular degeneration. Two well-studied major genes are complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2). There exist several commercially available tests that are proposed to stratify patients into high-risk and low-risk groups, as well as predict response to nutritional supplementation. However, at present, the bulk of the available peer-reviewed evidence suggests that genetic testing is more useful as a research tool than for clinical management of patients.

Keywords: ARMS2; CFH; age-related macular degeneration; age-related maculopathy susceptibility 2; complement factor H; pharmacogenetics; vascular endothelial growth factor.

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