Age-related macular degeneration (AMD) is the major cause of legal blindness in the industrialized world. Polymorphisms and recently discovered rare mutations of the Complement Factor H gene have been shown to be strongly associated with AMD. The deletion of CFH-related proteins 1 and 3, proteins that share homologous regions with CFH, is found in protective haplotypes. The following is a critical review of the current state of knowledge of the implication of CFH and CFH-related proteins 1 and 3 in AMD.
Keywords: Age-related macular degeneration; Complement Factor H; Dégénérescence maculaire liée à l’âge; Facteur complément H; Haplotypes protecteurs; Protective haplotypes.
Copyright © 2014. Published by Elsevier SAS.