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Heterogeneity of Usher Syndrome Type I

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Retinal Degeneration

Abstract

Usher syndrome consists of a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and the progressively blinding disorder, retinitis pigmentosa. In 1914 Usher was the first to describe the hereditary nature of this syndrome (1). Usher syndrome is the most common cause of deaf-blindness, causing at least 50% of all reported cases of combined deafness and blindness in developed countries. Its prevalence in the general population ranges from 3 to 5 per 100,000 and estimates of gene frequency variy from 1/70 to 1/100 (2). The Diagnosis of Usher syndrome is generally made following ophthalmoscopic examination of congenitally deaf patients. In Usher syndrome patients patients retinitis pigmentosa is the most important ocular finding while sensorineural hearing loss is the most frequent non-ocular abnormality.

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Author information

Authors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA

    Radha Ayyagari & J. Fielding Hejtmancik

  2. Molecular Otolaryngology research laboratories, Department of Otolaryngology-Head and Neck Surgery, The University of Iowa, Iowa City, IA, 52242, USA

    Richard J. H. Smith & Elizabeth C. Lee

  3. Boys Town National Research Hospital, Omaha, NE, 68131, USA

    William J. Kimberling

  4. Institute of Ophthalmology and Moorfields Eye Hospital, London, UK

    Marcelle Jay & Alan Bird

Authors
  1. Radha Ayyagari
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  2. Richard J. H. Smith
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  3. Elizabeth C. Lee
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  4. William J. Kimberling
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  5. Marcelle Jay
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  6. Alan Bird
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  7. J. Fielding Hejtmancik
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Editor information

Editors and Affiliations

  1. Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA

    Joe G. Hollyfield  & Robert E. Anderson  & 

  2. Beckman Vision Center, University of California, San Francisco, San Francisco, California, USA

    Matthew M. LaVail

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© 1993 Springer Science+Business Media New York

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Ayyagari, R. et al. (1993). Heterogeneity of Usher Syndrome Type I. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_12

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  • DOI: https://doi.org/10.1007/978-1-4615-2974-3_12

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-6294-4

  • Online ISBN: 978-1-4615-2974-3

  • eBook Packages: Springer Book Archive

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