A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I

Christian R. Otterstedde, Ulrich Spandau, Anita Blankenagel, William J. Kimberling, Christoph Reisser

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

Objectives: Usher's syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. Usher's syndrome is both clinically and genetically heterogeneous. Three clinical types are known today. Methods: We conducted a study on 74 patients with Usher's syndrome, performing complete audiological and neurotological examinations. Results: Twenty-six patients had total profound hearing loss and retinitis pigmentosa (Usher's syndrome type I), and 48 patients had moderate to severe sensorineural hearing loss and retinitis pigmentosa (Usher's syndrome type II). We identified 9 of the 26 Usher's syndrome patients with profound hearing loss who showed a normal response to bithermal vestibular testing. Conclusions: The combination of profound hearing loss and normal response to bithermal vestibular testing has not been previously described in Usher's syndrome. Therefore we describe a new subtype of Usher's syndrome type I and suggest a modified clinical classification for Usher's syndrome.

Original languageEnglish (US)
Pages (from-to)84-86
Number of pages3
JournalLaryngoscope
Volume111
Issue number1
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • Hereditary hearing impairment
  • Modified clinical classification
  • New subtype
  • Usher's syndrome
  • Vestibular system

ASJC Scopus subject areas

  • Otorhinolaryngology

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    Otterstedde, C. R., Spandau, U., Blankenagel, A., Kimberling, W. J., & Reisser, C. (2001). A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I. Laryngoscope, 111(1), 84-86. https://doi.org/10.1097/00005537-200101000-00014