Genetics and genetic testing for age-related macular degeneration

Eye (Lond). 2018 May;32(5):849-857. doi: 10.1038/eye.2017.245. Epub 2017 Nov 10.


Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the past decade. The genetic associations discovered to date are estimated to account for approximately half of AMD heritability, and functional studies of these variants have revealed new insights into disease pathogenesis, leading to the development of potential novel therapies. There is furthermore growing interest in genetic testing for predicting an individual's risk of AMD and offering personalised preventive or therapeutic treatments. We review the progress made so far in AMD genetics and discuss the possible applications for genetic testing.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Macular Degeneration / genetics*
  • Risk Factors