Unraveling the role of genetics in the pathogenesis of diabetic retinopathy

Eye (Lond). 2019 Apr;33(4):534-541. doi: 10.1038/s41433-019-0337-y. Epub 2019 Jan 24.


Diabetic retinopathy (DR) is a microvascular disease of the retina and the leading cause of visual disability in diabetic patients. Genetic factors have shown to play a pivotal role in DR onset, and several candidate genes have been associated with its progression. A literature search was performed to identify the genes known to be associated with DR through linkage analysis, candidate gene association, and genome-wide association studies (GWAS). A further literature search was performed to discover their potential connection with various biological pathways. A total of 65 genes were found and several of these genes belong to major signaling pathways known to play a significant role in DR, including systemic inflammation, angiogenesis, and neurogenesis. A comprehensive analysis presented in this review will be helpful in unraveling the role of genetics in the pathogenesis of DR.

Publication types

  • Review

MeSH terms

  • Diabetic Retinopathy / genetics*
  • Genetic Linkage
  • Genome-Wide Association Study
  • Humans
  • Neovascularization, Pathologic
  • Signal Transduction / genetics