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Molecular immunology DOI:10.1016/j.molimm.2014.06.032

Genetic variants in the complement system predisposing to age-related macular degeneration: A review.

Publication TypeJournal Article
Year of Publication2014
AuthorsSchramm, EC, Clark, SJ, Triebwasser, MP, Raychaudhuri, S, Seddon, JM, Atkinson, JP
JournalMolecular immunology
Date Published2014/07/15

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 proteins 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.