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

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

Author information

1
National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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.

PMID:
23009893
PMCID:
PMC3514599
DOI:
10.1016/j.ophtha.2012.06.042
[Indexed for MEDLINE]
Free PMC Article

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