Age-related macular degeneration (AMD) is a major cause of visual impairment in the western world. It is characterized by the presence of lipoproteinaceous deposits (drusen) in the inner layers of the retina. Immunohistochemistry studies identified deposition of complement proteins in the drusen as well as in the choroid. In the last decade, genetic studies have linked both common and rare variants in genes of the complement system to increased risk of development of AMD. Here, we review the variants described to date and discuss the functional implications of dysregulation of the alternative pathway of complement in AMD.

Original languageEnglish
Pages (from-to)118-125
Number of pages8
JournalMolecular Immunology
Issue number2
StatePublished - Oct 2014


  • Age-related macular degeneration
  • Alternative pathway
  • Complement system
  • Genetic variants


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