Audiologic Performance and Benefit of Cochlear Implantation in Usher Syndrome Type I

Pennings, Ronald J.E.; Damen, Godelieve W. J. A.; Snik, A.F.M.; Hoefsloot, Lies H.; Cremers, C.W.R.J.; Mylanus, Emmanuel A. M.

doi:10.1097/01.mlg.0000205167.08415.9e

Cited by 44 publications

(43 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Because of the wide clinical application of the well-developed cochlear implant for hearing loss (133, 134), more attention is currently focused on seeking effective treatments for retinitis pigmentosa in Usher syndrome. The easy access to the retina allows local delivery, small amount of administration, minimum immune response, and non-invasive monitoring of the treatment, thereby lending favorable advantages for a variety of therapeutic options.…”

Section: Therapeutic Studies For Ush2mentioning

confidence: 99%

Current understanding of usher syndrome type II

et al. 2012

View full text Add to dashboard Cite

Usher syndrome is the most common deafness-blindness caused by genetic mutations. To date, three genes have been identified underlying the most prevalent form of Usher syndrome, the type II form (USH2). The proteins encoded by these genes are demonstrated to form a complex in vivo. This complex is localized mainly at the periciliary membrane complex in photoreceptors and the ankle-link of the stereocilia in hair cells. Many proteins have been found to interact with USH2 proteins in vitro, suggesting that they are potential additional components of this USH2 complex and that the genes encoding these proteins may be the candidate USH2 genes. However, further investigations are critical to establish their existence in the USH2 complex in vivo. Based on the predicted functional domains in USH2 proteins, their cellular localizations in photoreceptors and hair cells, the observed phenotypes in USH2 mutant mice, and the known knowledge about diseases similar to USH2, putative biological functions of the USH2 complex have been proposed. Finally, therapeutic approaches for this group of diseases are now being actively explored.

show abstract

Section: Therapeutic Studies For Ush2mentioning

confidence: 99%

Current understanding of usher syndrome type II

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Among children with Usher syndrome, the benefit of implantation seems to be indisputable (8). Cochlear implantation in patients with USH1 improves the hearing performance when patients are implanted at an earlier age and is beneficial when performed within the first 2 decades of life (10). Overall quality of life (QOL) is enhanced by cochlear implant in patients with USH1 (9).…”

mentioning

confidence: 99%

Speech Recognition and Communication Outcomes With Cochlear Implantation in Usher Syndrome Type 3

Pietola

Aarnisalo

Abdel-Rahman

et al. 2012

Otology &Amp; Neurotology

View full text Add to dashboard Cite

show abstract

“…However, electroretinography is a sophisticated test requiring general sedation in children and therefore not routinely used in the clinic (Liu et al, 2008). Pennings et al (2006) conducted gene tests in 14 CI patients and found mutations in half of these patients. They concluded that gene testing could be used as one of the early diagnosis options in these patients.…”

Section: Usher Syndromementioning

confidence: 99%

Cochlear implants in genetic deafness

Liu

2014

Journal of Otology

View full text Add to dashboard Cite

Genetic defects are one of the most important etiologies of severe to profound sensorineural hearing loss and play an important role in determining cochlear implantation outcomes. While the pathogenic mutation types of a number of deafness genes have been cloned, the pathogenesis mechanisms and their relationship to the outcomes of cochlear implantation remain a hot research area. The auditory performance is considered to be affected by the etiology of hearing loss and the number of surviving spiral ganglion cells, as well as others. Current research advances in cochlear implantation for hereditary deafness, especially the relationship among clinic-types, genotypes and outcomes of cochlear implantation, will be discussed in this review.

show abstract

Audiologic Performance and Benefit of Cochlear Implantation in Usher Syndrome Type I

Abstract: Cochlear implantation in patients with USH1 improves the audiologic performance when patients are implanted at an earlier age and is beneficial according to the G(C)BI when performed within the first 2 decades of life.

Cited by 44 publications

References 15 publications

Current understanding of usher syndrome type II

Current understanding of usher syndrome type II

Speech Recognition and Communication Outcomes With Cochlear Implantation in Usher Syndrome Type 3

Cochlear implants in genetic deafness

Contact Info

Product

Resources

About