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

Stephen G. Schwartz; Blake M. Hampton; Jaclyn L. Kovach; Milam A. Brantley

doi:10.2147/OPTH.S109723

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

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

Ophthalmology

Research output: Contribution to journal › Review article

5 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1229-1235
Number of pages	7
Journal	Clinical Ophthalmology
Volume	10
DOIs	https://doi.org/10.2147/OPTH.S109723
State	Published - Jul 4 2016

Keywords

ARMS2
Age-related macular degeneration
Age-related maculopathy susceptibility 2
CFH
Complement factor H
Pharmacogenetics
Vascular endothelial growth factor

ASJC Scopus subject areas

Ophthalmology

Access to Document

10.2147/OPTH.S109723

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Schwartz, S. G., Hampton, B. M., Kovach, J. L., & Brantley, M. A. (2016). Genetics and age-related macular degeneration: A practical review for the clinician. Clinical Ophthalmology, 10, 1229-1235. https://doi.org/10.2147/OPTH.S109723

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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.",

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