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 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, Nashvi...

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Published in:Clinical ophthalmology (Auckland, N.Z.) N.Z.), 2016-07, Vol.2016 (Issue 1), p.1229-1235
Main Authors: Schwartz SG, Hampton BM, Kovach JL, Brantley MA Jr
Format: Article
Language:English
Subjects:
Age-related macular degeneration (AMD)
Age-related maculopathy susceptibility 2 (ARMS2)
Complement factor H (CFH)
Pharmacogenetics
Vascular endothelial growth factor (VEGF)
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Summary: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 34loci 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
ISSN:1177-5483