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Updated: Apr 26, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Genetic variants in the complement system predisposing to age-related macular degeneration: a review
Elizabeth C Schramm1, Simon J Clark2, Michael P Triebwasser1
1Division of Rheumatology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
Abstract:
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.
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