Clinical findings in obligate carriers of type I Usher syndrome

M. Wagenaar, B. Ter Rahe, A. Van Aarem, P. Huygen, R. Admiraal, E. Bleeker- Wagemakers, A. Pinckers, W. Kimberling, C. Cremers

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Two different audiometric patterns could he distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities.

Original languageEnglish (US)
Pages (from-to)375-379
Number of pages5
JournalAmerican journal of medical genetics
Volume59
Issue number3
DOIs
StatePublished - Nov 30 1995

Fingerprint

Usher Syndromes
Sensorineural Hearing Loss
Electrooculography
Hearing Loss
Chromosomes
Light

Keywords

  • Usher syndrome
  • autosomal recessive disorder
  • genetic blindness
  • genetic deafness
  • obligate carrier
  • retinitis pigmentosa

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Wagenaar, M., Ter Rahe, B., Van Aarem, A., Huygen, P., Admiraal, R., Bleeker- Wagemakers, E., ... Cremers, C. (1995). Clinical findings in obligate carriers of type I Usher syndrome. American journal of medical genetics, 59(3), 375-379. https://doi.org/10.1002/ajmg.1320590319

Clinical findings in obligate carriers of type I Usher syndrome. / Wagenaar, M.; Ter Rahe, B.; Van Aarem, A.; Huygen, P.; Admiraal, R.; Bleeker- Wagemakers, E.; Pinckers, A.; Kimberling, W.; Cremers, C.

In: American journal of medical genetics, Vol. 59, No. 3, 30.11.1995, p. 375-379.

Research output: Contribution to journalArticle

Wagenaar, M, Ter Rahe, B, Van Aarem, A, Huygen, P, Admiraal, R, Bleeker- Wagemakers, E, Pinckers, A, Kimberling, W & Cremers, C 1995, 'Clinical findings in obligate carriers of type I Usher syndrome', American journal of medical genetics, vol. 59, no. 3, pp. 375-379. https://doi.org/10.1002/ajmg.1320590319
Wagenaar M, Ter Rahe B, Van Aarem A, Huygen P, Admiraal R, Bleeker- Wagemakers E et al. Clinical findings in obligate carriers of type I Usher syndrome. American journal of medical genetics. 1995 Nov 30;59(3):375-379. https://doi.org/10.1002/ajmg.1320590319
Wagenaar, M. ; Ter Rahe, B. ; Van Aarem, A. ; Huygen, P. ; Admiraal, R. ; Bleeker- Wagemakers, E. ; Pinckers, A. ; Kimberling, W. ; Cremers, C. / Clinical findings in obligate carriers of type I Usher syndrome. In: American journal of medical genetics. 1995 ; Vol. 59, No. 3. pp. 375-379.
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