title: [Genetic studies of age related macular degeneration].
abstract: While during the 1980s epidemiological studies searched for possible associations of environmental factors, factors of lifestyle, and cardiovascular diseases with age-related macular degeneration (ARMD), this is now perceived as a multifactorial disorder with predisposing genetic constellations and with environmental factors contributing to disease progression. The evidence which supports a genetic background of ARMD comes from population-based studies as well as from familial aggregation and twin studies. Meanwhile, the knowledge about the genetics of ARMD has increased, however, the search for the genetic basis faces challenges and due to the late onset there is usually only one generation available for studies. Moreover, uncertainty surrounds the diagnosis in previous generations but nonetheless, ARMD is clinically heterogeneous and some ambiguity exists concerning the earliest signs. In this article, the current state of genetic research into ARMD as well as the techniques to approach this complex disorder will be discussed.
authors.affiliation: Augenklinik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg. zurdel@uke.uni-hamburg.de
authors.forename: J
authors.initials: J
authors.lastname: Zurdel
authors.forename: G
authors.initials: G
authors.lastname: Richard
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics; D015897:Comorbidity; D015870:Gene Expression / Q000502:physiology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors; D018433:Twin Studies as Topic
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D005819:Genetic Markers