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.

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.

SUBMITTER: Priya RR 

PROVIDER: S-EPMC3514599 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature