Age-related macular degeneration (AMD) is a chronic and progressive degenerative
disease of the retina, which culminates in blindness and affects mainly the elderly
population. AMD pathogenesis and pathophysiology are incredibly complex due to the
structural and cellular complexity of the retina, and the variety of risk factors and molecular
mechanisms that contribute to disease onset and progression. AMD is driven by a
combination of genetic predisposition, natural ageing changes and lifestyle factors, such as …

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 …