Original article
Usher syndrome: Definition and estimate of prevalence from two high-risk populations

https://doi.org/10.1016/0021-9681(83)90147-9Get rights and content

Abstract

The Usher Syndrome (US) refers to the combined neurosensory deficits of profound hearing impairment and retinitis pigmentosa. We have obtained information on 600 cases of deaf-blindness from the registry of the Helen Keller National Center for Deaf Blind Youths and Adults (HKNC). Of these, 54% met the diagnostic criteria of US, although only 23.8% were so diagnosed. More extensive analysis of 189 Usher clients from HKNC showed an excess of males, some variability in audiograms, and wide ophthalmologic variation. Genetic analysis of 113 sibships showed a segregation ratio consistent with recessive inheritance. The Acadian population of Louisiana has a high frequency of US which contributes significantly to the deaf population of the state. Among 48 cases from the Louisiana School for the Deaf, there was an excess of males, more variability in audiograms than expected, and an increased segregation ratio in the 26 informative sibships. Estimates of prevalence obtained using registry data and statistics from Louisiana clearly suggest that the previous estimate of 2.4 per 100.000 is too low for the United States. Recognizing problems with ascertainment, our prevalence estimate of 4.4 per 100.000 is still considered quite conservative.

References (15)

  • M Vernon

    Usher syndrome: Deafness and progressive blindness

    J Chron Dis

    (1969)
  • A von Graefe

    Vereinzelte Beobachtungen und Bermerkungen. Exceptionelles verhalten des Gesichtsfeldes bei Pigmentenartung der Netzhaut. Albrecht von Graefes

    Arch Klin Ophthalmol

    (1958)
  • CH Usher

    On the inheritance of retinitis pigmentosa, with notes of cases

    Royal London Ophthalmol Hosp Rep

    (1914)
  • S Merin et al.

    Usher's and Hallgren's syndromes

    Acta Genet Med Gemellol

    (1974)
  • GA Fishman

    Usher's syndrome: visual loss and variations in clinical expressivity

    Perspec Ophthalmol

    (1979)
  • CW Beatty et al.

    Usher's syndrome with unusual otologic manifestations

  • AC McLeod et al.

    Clinical variation in Usher's syndrome

    Arch Otolaryng

    (1971)
There are more references available in the full text version of this article.

Cited by (323)

View all citing articles on Scopus

This is paper No. 157 from the Department of Human Genetics, Medical College of Virginia.

View full text