Hereditäre Linsenluxation

Zusammenfassung

Eine Linsenluxation ist, wenn nicht traumatisch bedingt, meist hereditär. Sie ist ein Hauptsymptom mehrerer komplexer syndromaler Erkrankungen, wie z. B. dem Marfan-Syndrom oder der Homocystinurie. Auch bei anderen Bindegewebserkrankungen ist das Risiko für eine Linsenluxation erhöht. Weiterhin kann auch eine isoliert vorliegende Linsenluxation genetisch bedingt sein, wie z. B. bei Vorliegen von Mutationen im ADAMTSL4-Gen. Je nach genetischer Veränderung, die der Linsenluxation zugrunde liegt, ergeben sich für den Patienten unterschiedliche Konsequenzen: Zum einen können Begleitsymptome auftreten, die spezifische Vorsorge- und Behandlungskonsequenzen haben können. Zum anderen können nur durch den Mutationsnachweis der genaue Erbgang und somit die Risiken für weitere Familienmitglieder determiniert werden. Diese Arbeit gibt einen Überblick über die verschiedenen Formen und Ursachen der syndromalen und isolierten Linsenluxation, deren Genetik und ggf. therapeutische Konsequenzen, sowie einen Algorithmus für sinnvolle genetische Diagnostik.

Abstract

If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or homocystinuria. Also other connective tissue disorders convey an elevated risk for ectopia lentis. Isolated ectopia lentis is frequently caused by genetic alterations as well, most commonly due to mutations in ADAMTSL4. Depending on the molecular basis, the consequences for the management of patients may differ significantly: On the one hand, possible accompanying symptoms may require a specific surveillance and treatment. Also, the risk for other family members to develop ectopia lentis or accompanying symptoms can only be determined if the genetic cause and thus inheritance pattern are known. This review describes the different types and genetic causes of syndromal and isolated ectopia lentis as well as possible consequences for the patients; also it presents a sensible algorithm for the molecular diagnostic approach.

Schlüsselwörter

Genetik - Katarakt - Glaukom - Kinderophthamologie

Key words

genetics - cataract - glaucoma - paediatric ophthalmology

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