title: AMD and the alternative complement pathway: genetics and functional implications.
abstract: Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized by the progressive breakdown of the macula (the central region of the retina), resulting in the loss of central vision including visual acuity. While its molecular etiology remains unclear, advances in genetics and genomics have illuminated the genetic architecture of the disease and have generated attractive pathomechanistic hypotheses. Here, we review the genetic architecture of AMD, considering the contribution of both common and rare alleles to susceptibility, and we explore the possible mechanistic links between photoreceptor degeneration and the alternative complement pathway, a cascade that has emerged as the most potent genetic driver of this disorder.
authors.affiliation: Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27710, USA.|Department of Cell Biology, Duke University Medical Center, Durham, NC, 27710, USA.
authors.forename: Perciliz L
authors.initials: PL
authors.lastname: Tan
authors.affiliation: Department of Cell Biology, Duke University Medical Center, Durham, NC, 27710, USA.|Department of Ophthalmology, Duke Eye Center, Duke University, Durham, NC, 27710, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Bowes Rickman
authors.affiliation: Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27710, USA. Nicholas.Katsanis@duke.edu.|Department of Cell Biology, Duke University Medical Center, Durham, NC, 27710, USA. Nicholas.Katsanis@duke.edu.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Katsanis
mesh_terms: D000818:Animals; D003170:Complement Pathway, Alternative / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000276:immunology*; D009154:Mutation; D012307:Risk Factors