Review of genetics in age related macular degeneration

Sandra R. Montezuma, Lucia Sobrin, Johanna M. Seddon

Research output: Contribution to journalReview articlepeer-review

99 Scopus citations


Age-related macular degeneration (AMD) is a degenerative disease of the retina and the leading cause of blindness in industrialized countries. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. The prevalence of AMD increases with age. The adverse effect of smoking is well established. Genetic predisposition has been demonstrated by familial aggregation studies and twin studies. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. The chromosomes most commonly implicated are 1q25-31 and 10q26. In particular, variants in the gene for the complement factor H (CFH) and the genes PLEKHA1/LOC387715/HTRA1, Factor B (BF) and complement component 2 (C2) have been implicated as major risk or protective factors for the development of AMD. There have been some advances in the treatment of this condition; however, a complete cure remains remote but hopeful. Understanding the causative environmental and genetic interactions will facilitate the development of future preventive methods and treatments.

Original languageEnglish (US)
Pages (from-to)229-240
Number of pages12
JournalSeminars in Ophthalmology
Issue number4
StatePublished - Oct 2007


  • Adenosine triphosphate (ATP)
  • Age-related macular degeneration (AMD)
  • Apolipoprotein E (APOE)
  • Binding cassette rim (ABCR) protein
  • Choroidal neovascularization (CNV)
  • Complement Factor H (CFH) gene
  • Complement component 2 (C2)
  • Factor B (BF)


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