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Clin Genet. 2013 Aug;84(2):160-6. doi: 10.1111/cge.12206.

Age-related macular degeneration-clinical review and genetics update.

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Neurobiology-Neurodegeneration and Repair Laboratory, National Institutes of Health, Bethesda, MD, USA.


Age-related macular degeneration (AMD) is the leading cause of central vision impairment in persons over the age of 50 years in developed countries. Both genetic and non-genetic (environmental) factors play major roles in AMD etiology, and multiple gene variants and lifestyle factors such as smoking have been associated with the disease. While dissecting the basic etiology of the disease remains a major challenge, current genetic knowledge has provided opportunities for improved risk assessment, molecular diagnosis and clinical testing of genetic variants in AMD treatment and management. This review addresses the potential of translating the wealth of genetic findings for improved risk prediction and therapeutic intervention in AMD patients. Finally, we discuss the recent advancement in genetics and genomics and the future prospective of personalized medicine in AMD patients.


GWAS; age-related macular degeneration; disease management; exome-chip; rare-variant association; risk prediction; whole-exome sequencing; whole-genome sequencing

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