Genetics of immunological and inflammatory components in age-related macular degeneration

Ocul Immunol Inflamm. 2012 Feb;20(1):27-36. doi: 10.3109/09273948.2011.628432.


Age-related macular degeneration (AMD), affecting 30 to 50 million elder individuals worldwide, is a disease affecting the macular retina and choroid that can lead to irreversible central vision loss and blindness. Recent findings support a role for immunologic processes in AMD pathogenesis, including generation of inflammatory related molecules in the Bruch's membrane, recruitment of macrophages, complement activation, microglial activation and accumulation in the macular lesions. Pro-inflammatory effects of chronic inflammation and oxidative stress can result in abnormal retinal pigment epithelium, photoreceptor atrophy and choroidal neovascularization. The associations of immunological and inflammatory genes, in particular the genes related to innate immunity with AMD support the involvement of various immunological pathways in the AMD pathogenesis. We review the literature on the involvements of inflammatory genes in AMD, highlight recent genetic discoveries, and discuss the potential application of such knowledge in the management of patients with AMD.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Complement System Proteins / biosynthesis
  • Complement System Proteins / genetics*
  • Cytokines / biosynthesis
  • Cytokines / genetics*
  • Gene Expression Regulation*
  • Global Health
  • Humans
  • Immunity, Innate*
  • Inflammation*
  • Macular Degeneration* / epidemiology
  • Macular Degeneration* / genetics
  • Macular Degeneration* / immunology
  • Morbidity


  • Cytokines
  • Complement System Proteins