Stable and progressive hearing loss in type 2A Usher's syndrome

Annelies Van Aarem, Alfred J.L.G. Pinckers, William J. Kimberling, Patrick L.M. Huygen, Elisabeth M. Bleeker-Wagemakers, Cor W.R.J. Cremers

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A locus). Serial audiograms, available in 13 patients, were used for a regression analysis of binaural pure tone average on age (follow-up, 9 to 32 years) to test for 'significant progression,' ie, a significant regression coefficient, here called the 'annual threshold increase' (ATI, expressed in decibels per year). A significant ATI (>1 dB/y) was observed in 3 patients. Analysis of variance of ATI demonstrated significant heterogeneity; heating loss was either stable or progressive. This implies a significant clinical heterogeneity. A similar analysis performed on our progressive USH2A cases and 'type III' cases previously reported by others (ATI of 1 to 5 dB/y), some of which were recently linked to chromosome 3q (USH3 locus), failed to show any significant heterogeneity in the progression of hearing loss.

Original languageEnglish (US)
Pages (from-to)962-967
Number of pages6
JournalAnnals of Otology, Rhinology and Laryngology
Issue number12
StatePublished - Dec 1996
Externally publishedYes


  • deaf-blindness
  • gene linkage
  • genetic deafness
  • progressive deafness
  • retinitis pigmentosa
  • sensorineural hearing loss
  • type III Usher's syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology


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