LAUSR

HighlightsThe complement system plays a central role in age‐related macular degeneration (AMD).Common and rare genetic variants in complement genes have been identified in AMD.Several of the rare variants affect the functioning of the complement system.However, a genetic association with AMD cannot always be proven.Functional assays can help identify patients for complement inhibiting therapies. Abstract 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.