The Usher Syndromes

William J Kimberling, Ann Lindenmuth

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

Usher syndrome is the most common cause of "deaf/blindness" in developed countries. Its presenting symptom is hearing loss, which means that the audiologist is often the first to see a child with Usher syndrome. Due to the marked heterogeneity of hearing loss, it is often difficult to confirm a diagnosis of Usher syndrome until the onset of visual symptoms. There are three clinical types (I, II, and III) based on severity and age at onset of hearing, visual, and vestibular symptoms. However, there are at least eight molecular subtypes as defined by the specific gene involved. Molecular diagnostic techniques are available on a limited basis to assist the clinician in early confirmation of the diagnosis and in defining specific Usher syndrome genetic subtypes. Furthermore, advances in the understanding of the molecular genetics of Usher syndrome indicate that most, if not all, of the Usher genes produce proteins that work together in a molecular complex. This not only helps explain why mutations in the different genes all produce similar phenotypes, but it offers hope for therapies that may mitigate the vision and hearing losses of all the Usher syndromes. Effective therapy is the ultimate goal and progress is being made toward that objective along several fronts.

Original languageEnglish (US)
Pages (from-to)182-192
Number of pages11
JournalSeminars in Hearing
Volume27
Issue number3
DOIs
StatePublished - Aug 1 2006

Fingerprint

Usher Syndromes
Hearing Loss
Hope
Deaf-Blind Disorders
Molecular Diagnostic Techniques
Blindness
Age of Onset
Developed Countries
Hearing
Genes
Molecular Biology
Early Diagnosis
Phenotype
Mutation
Therapeutics

Keywords

  • Molecular diagnosis
  • Therapy
  • Usher syndrome

ASJC Scopus subject areas

  • Speech and Hearing

Cite this

Kimberling, W. J., & Lindenmuth, A. (2006). The Usher Syndromes. Seminars in Hearing, 27(3), 182-192. https://doi.org/10.1055/s-2006-947285

The Usher Syndromes. / Kimberling, William J; Lindenmuth, Ann.

In: Seminars in Hearing, Vol. 27, No. 3, 01.08.2006, p. 182-192.

Research output: Contribution to journalReview article

Kimberling, WJ & Lindenmuth, A 2006, 'The Usher Syndromes', Seminars in Hearing, vol. 27, no. 3, pp. 182-192. https://doi.org/10.1055/s-2006-947285
Kimberling WJ, Lindenmuth A. The Usher Syndromes. Seminars in Hearing. 2006 Aug 1;27(3):182-192. https://doi.org/10.1055/s-2006-947285
Kimberling, William J ; Lindenmuth, Ann. / The Usher Syndromes. In: Seminars in Hearing. 2006 ; Vol. 27, No. 3. pp. 182-192.
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