The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment
SourceMolecular Immunology, 84, (2017), pp. 65-76
Article / Letter to editor
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SubjectRadboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences
Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have found both common and rare genetic variants in the complement pathway to play a role in the pathogenesis of AMD. In this review we provide an overview of rare variants identified in AMD patients, and summarize the functional consequences of rare genetic variation in complement genes on the complement system. Finally, we discuss the relevance of this work in light of ongoing clinical trials that study the effectiveness of complement inhibitors against AMD.
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