Genetik der altersabhängigen Makuladegeneration

  • H. Stöhr
  • B. H. F. Weber

Zusammenfassung

Bei der altersabhängigen Makuladegeneration (AMD) handelt es sich um eine multifaktorielle Erkrankung, wobei sowohl Umweltfaktoren als auch prädisponierende Gene eine Rolle spielen (Hyman et al.1983; Heiba et al. 1994; Seddon et al. 1997). Im Gegensatz zu Erkrankungen, die sich streng nach den Mendel-Gesetzen vererben, handelt es sich bei der AMD um eine sog. komplexe Erkrankung, die nicht durch einen einzelnen Genlocus repräsentiert wird. Diesen komplexen Erkrankungen liegen komplizierte Vererbungsgänge zugrunde, bei denen das Zusammenwirken zahlreicher genetischer Varianten zu beobachten ist. Die Zahl der bei einer Erkrankung involvierten Gene, deren individueller Beitrag zur Pathogenese und die spezifische Natur ihrer Wechselwirkung, bleibt in den meisten Fällen bis heute unklar (Lander u. Schork 1994; Risch 2000). Bei der AMD ergeben sich zusätzliche Probleme: der oft späte Krankheitsbeginn, die inkomplette Penetranz, Phänokopien und die klinische Heterogenität erschweren die genetische Analyse. Trotz dieser Schwierigkeiten wird die Entschlüsselung des menschlichen Genoms gemeinsam mit weiteren Fortschritten in der Gentechnologie sowie Verbesserung der Diagnose klinischer Phänotypen zu einem besseren Verständnis der genetischen Komponenten beitragen, die der AMD zugrunde liegen.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2004

Authors and Affiliations

  • H. Stöhr
  • B. H. F. Weber

There are no affiliations available

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