The Usher syndrome type 2A: clinical findings in obligate carriers.
Int J Pediatr Otorhinolaryngol
; 31(2-3): 159-74, 1995 Mar.
Article
em En
| MEDLINE
| ID: mdl-7782174
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
/
Surdez
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article