Role of genetic factors in the pathogenesis of exudative age-related macular degeneration

Abstract Exudative age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness worldwide. Many recent genetic association studies on large case–control cohorts have helped in drawing an outline of the pathogenesis of AMD. The majority of the associations observed in oxidative stress and lipid peroxidation ( complement factor H or CFH ), complement ( CFH, C3, complement factor I, C2, complement factor B ), and neovascularization ( vascular endothelial growth factor A, high-temperature requirement factor A1 ) genes have been replicated in diverse populations worldwide. In this review, we have provided an overview on the genetic factors in the pathogenesis of AMD, and highlight their underlying molecular genetic mechanisms. Further comprehensive research is needed to verify this outline, to explore the treatment target, and to develop the effective primary and secondary prevention of AMD.