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

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

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations


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 languageEnglish (US)
Pages (from-to)1229-1235
Number of pages7
JournalClinical Ophthalmology
StatePublished - Jul 4 2016


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

ASJC Scopus subject areas

  • Ophthalmology


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