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A New Clinical Classification for Usher's Syndrome Based on a New Subtype of Usher's Syndrome Type I
Author(s) -
Otterstedde Christian R.,
Spandau Ulrich,
Blankenagel Anita,
Kimberling William J.,
Reisser Christoph
Publication year - 2001
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/00005537-200101000-00014
Subject(s) - usher syndrome , retinitis pigmentosa , medicine , hearing loss , sensorineural hearing loss , audiology , congenital hearing loss , ophthalmology , retinal
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 e‐aminations. Results Twenty‐si‐ 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.