The Usher syndrome type 2A: clinical findings in obligate carriers

Int J Pediatr Otorhinolaryngol. 1995 Mar;31(2-3):159-74. doi: 10.1016/0165-5876(94)01081-8.


Ten obligate carriers of Usher syndrome type 2A from 5 different families with 2 affected persons all underwent audiologic, vestibular and ophthalmologic examinations. They had a sensorineural hearing loss which was in excess of that expected for their age at all of the frequencies (0.25-8 kHz) tested, however, only a 10 dB (average) excess in hearing loss at 0.25-0.5 kHz proved to be significant. The speech discrimination scores obtained conformed with the hearing thresholds. Tympanometry, acoustic reflex and brain stem auditory-evoked potential findings were generally normal. Some vestibular abnormalities were found in a minority of the carrier sample, but not beyond the level of false positivity. Ophthalmologic findings were essentially normal, although in 5 carriers there was a subnormal electrooculography (EOG). These findings are not sufficient specific for carrier detection.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acoustic Impedance Tests
  • Adolescent
  • Adult
  • Aged
  • Audiometry, Pure-Tone
  • Auditory Threshold / physiology
  • Chromosomes, Human, Pair 1 / genetics
  • Deafness / congenital*
  • Deafness / genetics*
  • Electronystagmography
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Eye Movements / physiology
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Reflex, Acoustic / genetics
  • Retinitis Pigmentosa / genetics*
  • Speech Perception / physiology
  • Syndrome
  • Vestibule, Labyrinth / physiopathology