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

Schwartz SG, Hampton BM, Kovach JL, Brantley MA
Clin Ophthalmol. 2016 10: 1229-35

PMID: 27445455 · PMCID: PMC4938141 · DOI:10.2147/OPTH.S109723

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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