AMD and the alternative complement pathway: genetics and functional implications

Perciliz L. Tan, Catherine Bowes Rickman, Elias Nicholas Katsanis

Research output: Contribution to journalReview articlepeer-review

28 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)23
Number of pages1
JournalHuman genomics
Volume10
Issue number1
DOIs
StatePublished - Jun 21 2016

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery

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