Back to Journals » Clinical Ophthalmology » Volume 10

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


Checked for plagiarism Yes

Review by Single anonymous peer review

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

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]