title: The genetics of age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is increasingly recognized as a complex genetic disorder in which one or more genes contribute to an individual's susceptibility for developing the condition. Twin and family studies as well as population-based genetic epidemiologic methods have convincingly demonstrated the importance of genetics in AMD, though the extent of heritability, the number of genes involved, and the phenotypic and genetic heterogeneity of the condition remain unresolved. The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. Alzheimer's disease, another late onset, heterogeneous degenerative disorder of the central nervous system, offers a valuable model for identifying the issues that confront AMD genetics.
authors.affiliation: The Departments of Ophthalmology and Human Genetics, University of Pittsburgh School of Medicine and Graduate School of Public Health, Pittsburgh, PA 15213, USA. gorin@vision.eei.upmc.edu
authors.forename: M B
authors.initials: MB
authors.lastname: Gorin
authors.forename: J C
authors.initials: JC
authors.lastname: Breitner
authors.forename: P T
authors.initials: PT
authors.lastname: De Jong
authors.forename: G S
authors.initials: GS
authors.lastname: Hageman
authors.forename: C C
authors.initials: CC
authors.lastname: Klaver
authors.forename: M H
authors.initials: MH
authors.lastname: Kuehn
authors.forename: J M
authors.initials: JM
authors.lastname: Seddon
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics; D004781:Environmental Exposure; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000145:classification / Q000150:complications / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D015593:Retinal Drusen / Q000150:complications / Q000473:pathology; D018433:Twin Studies as Topic
chemical_list: D001057:Apolipoproteins E