title: Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.
abstract: 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.
  
  
  METHODS
  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.
  
  
  BACKGROUND
  Proprietary or commercial disclosures may be found after the references.
authors.affiliation: National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: Rinki Ratna
authors.initials: RR
authors.lastname: Priya
authors.forename: Emily Y
authors.initials: EY
authors.lastname: Chew
authors.forename: Anand
authors.initials: A
authors.lastname: Swaroop
mesh_terms: D020533:Angiogenesis Inhibitors / Q000627:therapeutic use*; D018450:Disease Progression; D005136:Eye Proteins / Q000235:genetics; D059647:Gene-Environment Interaction; D008040:Genetic Linkage; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D010597:Pharmacogenetics; D010778:Photochemotherapy; D018570:Risk Assessment
chemical_list: D020533:Angiogenesis Inhibitors; D005136:Eye Proteins