Zusammenfassung
Die altersabhängige Makuladegeneration (AMD) ist die häufigste Ursache für eine Erblindung in Deutschland. Aufgrund der demografischen Entwicklung ist zudem mit einer deutlichen Zunahme von Betroffenen zu rechnen. Neue Erkenntnisse zur Pathogenese der AMD wurden in den letzten Jahren durch molekularbiologische Methoden generiert, die insbesondere die Assoziation genetischer Faktoren mit der AMD herausstellten. Vor allem das Komplementfaktor-H-Gen sowie der zweite Hochrisiko-Locus ARMS2 sind maßgeblich am Risiko für die Erkrankung beteiligt. Normale Alterungsprozesse und Umwelteinflüsse wie Rauchen und erhöhte Lichtexposition modulieren das individuelle genetische Risikoprofil. Ein verbessertes Verständnis der komplexen AMD-Pathogenese ist auch in der augenärztlichen Praxis notwendig, um neue Therapien zu verstehen und den Patienten adäquat zu betreuen. In diesem Fortbildungsbeitrag soll eine Übersicht über das Zusammenspiel von Altern, externen Umwelteinflüssen und genetischen Faktoren bei der Entwicklung der AMD gegeben werden.
Abstract
Age-related macular degeneration (AMD) is the most common cause of blindness in Germany. Due to the demographic development a further increase of affected patients is to be expected. Improved understanding of AMD pathogenesis resulted from the molecular biological approaches in recent years and showed an association of genetic factors with AMD. The complement factor H gene and the second high-risk locus ARMS2 in particular were found to contribute a significant risk for development of the disease. Ageing and environmental factors, such as smoking, modulate the individual genetic risk profile. A detailed understanding of the complex AMD pathogenesis is also relevant in ophthalmological practice to understand new treatment strategies. In this review we aim to give an overview of the interplay of ageing, external environmental factors and genetic risk variants leading to AMD.
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Danksagung
DFG (HE 6175/1–1), ProRetina.
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Herrmann, P., Holz, F. & Charbel Issa, P. Ätiologie und Pathogenese der altersabhängigen Makuladegeneration. Ophthalmologe 110, 377–389 (2013). https://doi.org/10.1007/s00347-012-2779-5
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DOI: https://doi.org/10.1007/s00347-012-2779-5