Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management

Ophthalmology. 2012 Dec;119(12):2526-36. doi: 10.1016/j.ophtha.2012.06.042. Epub 2012 Sep 23.


Background: Age-related macular degeneration (AMD) is a common cause of visual impairment in individuals >55 years of age worldwide. The varying clinical phenotypes of AMD result from contributions of genetic, epigenetic, and nongenetic (environmental) factors. Genetic studies of AMD have come of age as a direct result of tremendous gains from the human genome project, genome-wide association studies, and identification of numerous susceptibility loci. These findings have implicated immune response, high-density lipoprotein cholesterol metabolism, extracellular matrix, and angiogenesis signaling pathways in disease pathophysiology.

Main outcome measures: Herein, we address how the wealth of genetic findings in AMD is expected to impact the practice of medicine, providing opportunities for improved risk assessment, molecular diagnosis, preventive, and therapeutic intervention.

Conclusions: We propose that the potential of using genetic variants for monitoring treatment response (pharmacogenetics) may usher in a new era of personalized medicine in the clinical management of AMD.

Financial disclosure(s): Proprietary or commercial disclosures may be found after the references.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Angiogenesis Inhibitors / therapeutic use*
  • Disease Progression
  • Eye Proteins / genetics
  • Gene-Environment Interaction
  • Genetic Linkage
  • Genetic Variation*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics*
  • Macular Degeneration / therapy*
  • Pharmacogenetics*
  • Photochemotherapy*
  • Risk Assessment


  • Angiogenesis Inhibitors
  • Eye Proteins