The roles of genetic factors in uveitis and their clinical significance

Retina. 2014 Jan;34(1):1-11. doi: 10.1097/IAE.0b013e31829f7415.


Background: Uveitis is a diverse group of intraocular inflammatory disease and is a significant cause of visual loss worldwide. Recent studies have identified various endogenous immune mechanisms and genetic factors that are involved in the pathogenesis of uveitis. This review provides an overview on the role of genetics in the development and clinical course of uveitis.

Methods: PUBMED was used for literature search, and articles published from 1970 to 2012 that evaluated the genetic associations and mechanisms involved in the development and clinical features of uveitis were included.

Results: Studies have demonstrated associations between various genetic factors and the development and clinical course of intraocular inflammatory conditions. Genes involved included genes expressing interleukins, chemokines, chemokine receptors, and tumor necrosis factor and genes involved in complement system, oxidation, and other intracellular molecular pathways.

Conclusion: Multiple genetic factors play important roles in the pathogenesis of uveitis and may influence the clinical course of uveitis. Further studies to investigate the genetic mechanisms of uveitis might identify additional genetic associations and might have the potential for identifying novel therapeutic targets in the treatment of intraocular inflammation.

Publication types

  • Review

MeSH terms

  • Chemokines / genetics
  • Complement System Proteins / genetics
  • HLA Antigens / genetics
  • Humans
  • Molecular Biology*
  • Uveitis / genetics*


  • Chemokines
  • HLA Antigens
  • Complement System Proteins