Audiologic Performance and Benefit of Cochlear Implantation in Usher Syndrome Type I
β Scribed by Ronald J. E. Pennings; Godelieve W. J. A. Damen; Ad F. M. Snik; Lies Hoefsloot; Cor W. R. J. Cremers; Emmanuel A. M. Mylanus
- Book ID
- 110088016
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 425 KB
- Volume
- 116
- Category
- Article
- ISSN
- 0023-852X
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Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B
Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present stu
Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least