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Klin Monbl Augenheilkd 2016; 233(03): 251-256
DOI: 10.1055/s-0042-101555
Übersicht
Georg Thieme Verlag KG Stuttgart · New York

Netzhautbeteiligung bei Muskeldystrophien

Muscular Dystrophies Involving the Retinal Function
H. Jägle
Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Regensburg
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Further Information

Publication History

eingereicht 18 December 2015

akzeptiert 18 January 2016

Publication Date:
24 March 2016 (online)

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Zusammenfassung

Muskeldystrophien sind mit einer Häufigkeit von ungefähr 20 in 100 000 Einwohnern selten und nur bei einem Teil davon kommt es zur Beteiligung von Netzhaut oder Sehnerv. Der ophthalmologische Befund kann dabei diagnoseweisend sein oder zur Führung der Behandlung dienen. Ein Beispiel hierfür ist die Duchenne-Muskeldystrophie, bei der die messbaren Veränderungen der Netzhautfunktion mit der zerebralen Beteiligung korrelieren. Weitere wichtige Formen sind die mitochondrialen Erkrankungen sowie Stoffwechselstörungen wie z. B. das Kearns-Sayre-Syndrom oder das Refsum-Syndrom. Eine molekulargenetische Untersuchung ist inzwischen wesentlicher Bestandteil der differenzialdiagnostischen Abklärung und kann, wie im Falle der mitochondrialen Störungen, sehr aufwendig sein. Es werden die wichtigsten Muskeldystrophien mit Netzhautbeteiligung und deren molekulargenetische Ursache als Hilfe zur differenzialdiagnostischen Abklärung dargestellt.

Abstract

Muscular dystrophies are rare disorders, with an incidence of approx. 20 in 100 000. Some dystrophies also affect retinal or optic nerve function. In such cases, the ophthalmological findings may be critical for differential diagnosis or patient counseling. For example in Duchenne muscular dystrophy, where the alteration in retinal function seems to reflect cerebral involvement. Other important forms are mitochondrial and metabolic disorders, such as the Kearns-Sayre syndrome and the Refsum syndrome. Molecular genetic analysis has become a major tool for differential diagnosis, but may be complex and demanding. This article gives an overview of major muscular dystrophies involving retinal function and their genetic origin, in order to guide differential diagnosis.

Schlüsselwörter

Muskeldystrophie - Mitochondriopathie - Netzhautdystrophie

Key words

muscular dystrophy - mitochondrial disorders - retinal dystrophy
 

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