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A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I.
Laryngoscope. 2001 Jan; 111(1):84-6.L

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.

Authors+Show Affiliations

Otterstedde CR
Department of Otolaryngology-Head and Neck Surgery, University of Heidelberg, Germany.
Spandau U
No affiliation info available
Blankenagel A
No affiliation info available
Kimberling WJ
No affiliation info available
Reisser C
No affiliation info available

MeSH

AdultAge FactorsAudiometry, Pure-ToneDeafnessEvoked Potentials, AuditoryEvoked Potentials, Auditory, Brain StemGenes, RecessiveHearing Loss, SensorineuralHumansMiddle AgedNystagmus, PhysiologicRetinitis PigmentosaSyndromeVestibular Function TestsVestibule, LabyrinthVision Disorders

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11192904

Citation

Otterstedde, C R., et al. "A New Clinical Classification for Usher's Syndrome Based On a New Subtype of Usher's Syndrome Type I." The Laryngoscope, vol. 111, no. 1, 2001, pp. 84-6.
Otterstedde CR, Spandau U, Blankenagel A, et al. A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I. Laryngoscope. 2001;111(1):84-6.
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. The Laryngoscope, 111(1), 84-6.
Otterstedde CR, et al. A New Clinical Classification for Usher's Syndrome Based On a New Subtype of Usher's Syndrome Type I. Laryngoscope. 2001;111(1):84-6. PubMed PMID: 11192904.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I. AU - Otterstedde,C R, AU - Spandau,U, AU - Blankenagel,A, AU - Kimberling,W J, AU - Reisser,C, PY - 2001/2/24/pubmed PY - 2001/2/28/medline PY - 2001/2/24/entrez SP - 84 EP - 6 JF - The Laryngoscope JO - Laryngoscope VL - 111 IS - 1 N2 - 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. SN - 0023-852X UR - https://www.unboundmedicine.com/medline/citation/11192904/A_new_clinical_classification_for_Usher's_syndrome_based_on_a_new_subtype_of_Usher's_syndrome_type_I_ DB - PRIME DP - Unbound Medicine ER -