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Klinik, Diagnostik und Behandlungsoptionen des Usher-Syndroms

Usher syndrome: Clinical features, diagnostic options, and therapeutic prospects

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Zusammenfassung

Das Usher-Syndrom ist durch eine genetisch und klinisch heterogene Kombination aus Retinitis pigmentosa und Innenohrschwerhörigkeit gekennzeichnet. Unterschiede in der Ausprägung des Hörverlustes haben zur Einteilung in die Subtypen I, II und III geführt: Gehörlosigkeit von Geburt an, Gleichgewichtsstörungen und verzögertes Laufenlernen bei Typ I, leichte bis mittelgradige sensorineurale Schwerhörigkeit bei Typ II (stationär) und Typ III (progredient).

Aktuell relevant ist das Usher-Syndrom wegen des seit Januar 2009 gesetzlich vorgeschriebenen Hörscreenings bei Neugeborenen. Es ist davon auszugehen, dass zukünftig deutlich mehr Usher-Patienten im Kleinkindalter diagnostiziert und dem Augenarzt vorgestellt werden.

Der vorliegende Beitrag stellt das typische klinische Bild vor, gibt eine kurze Übersicht über zielführende diagnostische Optionen, und erläutert mögliche Behandlungsansätze.

Abstract

Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset.

In Germany, Usher syndrome currently bears particular relevance because in January 2009 a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists.

The focus of this work is to introduce the typical clinical picture of Usher syndrome, summarize diagnostic options, and give an overview of therapeutic strategies.

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Authors and Affiliations

  1. Department für Augenheilkunde, Forschungsinstitut für Augenheilkunde, Bereich Neurodegeneration des Auges, Schleichstr. 4/3, 72076, Tübingen, Deutschland

    M.W. Seeliger & M.D. Fischer

  2. Universitätsklinik für Hals-, Nasen- und Ohrenheilkunde, Universitätsklinikum Tübingen, Tübingen, Deutschland

    M. Pfister

Authors
  1. M.W. Seeliger
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  2. M.D. Fischer
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  3. M. Pfister
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Correspondence to M.W. Seeliger or M. Pfister.

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Mit Unterstützung der DFG (Se 837/6-1) und der EU (EU HEALTH-F2-2008-200234).

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Seeliger, M., Fischer, M. & Pfister, M. Klinik, Diagnostik und Behandlungsoptionen des Usher-Syndroms. Ophthalmologe 106, 505–511 (2009). https://doi.org/10.1007/s00347-008-1888-7

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  • DOI: https://doi.org/10.1007/s00347-008-1888-7

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