Age-related Macular Degeneration: Genetic and Environmental Factors of Disease

  1. Yuhong Chen1,2,
  2. Matthew Bedell2 and
  3. Kang Zhang2,3
  1. 1 Department of Ophthalmology and Vision Science, Eye and ENT Hospital, Fudan University, Shanghai, 200031, China
  2. 2 Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA, 92093-0838
  3. 3 Department of Ophthalmology, West China Hospital, Sichuan University, 610041, China


Age-related macular degeneration (AMD) is the most common cause of visual impairment among the elderly in developed countries, and its prevalence is thus increasing as the population ages; however, treatment options remain limited because the etiology and pathogenesis of AMD are incompletely defined. Recently, much progress has been made in gene discovery and mechanistic studies, which clearly indicate that AMD involves the interaction of multiple genetic and environmental factors. The identification of genes that have a substantial impact on the risk for AMD is not only facilitating the diagnosis and screening of populations at risk but is also elucidating key molecular pathways of pathogenesis. Pharmacogenetic studies of treatment responsiveness among patients with the “wet” form of AMD are increasingly proving to be clinically relevant; pharmacogenetic approaches hold great promise for both identifying patients with the best chance for vision recovery as well as tailoring individualized therapies.

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