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

Authors Schwartz S, Hampton B, Kovach J, Brantley M

Received 2 April 2016

Accepted for publication 23 May 2016

Published 4 July 2016 Volume 2016:10 Pages 1229—1235

DOI https://doi.org/10.2147/OPTH.S109723

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Lucy Goodman

Peer reviewer comments 3

Editor who approved publication: Dr Scott Fraser


Stephen G Schwartz,1 Blake M Hampton,1 Jaclyn L Kovach,1 Milam A Brantley Jr2

1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Ophthalmology, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA

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

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