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Molekulare Grundlagen erblicher Netzhautdegenerationen: Retinitis pigmentosa, Zapfen- und Makuladystrophien

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Monogen bedingte Erbkrankheiten 2

Part of the book series: Handbuch der Molekularen Medizin ((HDBMOLEK,volume 7))

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Zusammenfassung

In diesem Beitrag werden die Fortschritte der letzten Jahre auf dem Gebiet der molekulargenetischen Aufklßrung hereditßrer Netzhautdystrophien (im engeren und weiteren Sinn) zusammengefasst. Hierzu soll zunßchst eine kurze Einführung in die Anatomie und Physiologie der Netzhaut sowie die grundlegenden Strategien gegeben werden, die bis heute zur Identifizierung der entsprechenden Krankheitsgene geführt haben. Die einzelnen Krankheitsgene werden im Detail beschrieben und, soweit bekannt, die molekularpathologischen Mechanismen erlßutert. Mit wachsender Kenntnis der genetischen Grundlagen nimmt auch unser Wissen über die normalen physiologischen Vorgßnge im menschlichen Netzhaut-Aderhaut-Komplex zu. Damit verknüpft sich die Hoffnung, dass in absehbarer Zeit wirkungsvolle Therapieansßtze ausgearbeitet werden können, die die Entwicklung bzw. das Fortschreiten von visusmindernden Komplikationen entscheidend beeinflussen können.

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Authors
  1. Eckart Apfelstedt-Sylla
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  2. Andreas Gal
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  3. Bernhard H. F. Weber
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Apfelstedt-Sylla, E., Gal, A., Weber, B.H.F. (2000). Molekulare Grundlagen erblicher Netzhautdegenerationen: Retinitis pigmentosa, Zapfen- und Makuladystrophien. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 2. Handbuch der Molekularen Medizin, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57044-5_3

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