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Genetik und Risikofaktoren der exsudativen AMD

Genetic and risk factors for exudative AMD

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Zusammenfassung

Die altersabhängige Makuladegeneration (AMD) stellt als komplexe Erkrankung der Netzhautmitte die wichtigste Erblindungsursache des alternden Menschen dar. Vor allem die exsudative AMD kann eine rasch progrediente Visusabnahme bedingen. Die Kenntnis pathogenetischer Mechanismen der exsudativen AMD ist deshalb für die Prognose des individuellen Krankheitsverlaufs und die Entwicklung präventiver und therapeutischer Maßnahmen entscheidend. Neben dem Alter sind nur wenige umweltbedingte Risikofaktoren gesichert, wobei Rauchen das größte modifizierbare Risiko birgt. Als wichtigste genetische Grundlagen der Erkrankung wurden Varianten im CFH- und ARMS2-Gen identifiziert. Dabei ist ARMS2 v. a. mit der Progression zur exsudativen AMD assoziiert, während CFH sowohl mit der exsudativen wie mit der atrophischen Form der AMD zusammenzuhängen scheint. Weitere Erkenntnisse hinsichtlich spezifischer Risikofaktoren für Untergruppen der exsudativen AMD und daraus resultierender präventiver und therapeutischer Einflussmöglichkeiten sind in zukünftigen Studien zu erwarten.

Abstract

Age-related macular degeneration (AMD) is a complex disease of the central retina and the most important cause of blindness in the elderly. Exudative AMD in particular is responsible for cases of rapidly progressive visual impairment. Knowledge of pathogenetic mechanisms in exudative AMD is of particular importance for individual prognosis and the development of preventive and therapeutic options. Apart from age, smoking is the only consistently found major modifiable risk factor. Exudative AMD has a clear genetic basis with variants in the CFH and ARMS2 genes as major contributors. While ARMS2 seems to primarily influence the progression to exudative AMD, CFH seems equally related to the development of the exudative and atrophic forms of late AMD. Further differences relating to genetic and environmental risk factors in subgroups of exudative AMD are to be expected from future studies.

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Abb. 1

Abbreviations

NC:

Noncarrier der Risikovariante

HET:

Heterozygote für die Risikovariante

HOM:

Homozygote für die Risikovariante

CFH:

Komplementfaktor-H-Gen

ARMS2:

ARMS2-Gen

OR:

Odds Ratio

KI:

Konfidenzintervall

n:

Teilnehmerzahl

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Authors and Affiliations

  1. Institut für Epidemiologie und Sozialmedizin, Westfälische Wilhelms-Universität Münster, Domagkstraße 3, 48149, Münster, Deutschland

    M. Dietzel, A. Farwick &  H.-W. Hense

  2. Augenabteilung, St.-Franziskus-Hospital Münster, Münster, Deutschland

    M. Dietzel

  3. Leibniz-Institut für Arterioskleroseforschung, Münster, Deutschland

    A. Farwick

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  1. M. Dietzel
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  3. H.-W. Hense
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Correspondence to H.-W. Hense.

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M. Dietzel und A. Farwick haben zu gleichen Teilen zu der Arbeit beigetragen

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Dietzel, M., Farwick, A. & Hense, HW. Genetik und Risikofaktoren der exsudativen AMD. Ophthalmologe 107, 1103–1108 (2010). https://doi.org/10.1007/s00347-010-2141-8

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