Literature DB >> 11190026

Early diagnosis of Usher syndrome in children.

M B Mets1, N M Young, A Pass, J B Lasky.   

Abstract

PURPOSE: To screen severe to profound, preverbal hearing-impaired children for Usher syndrome by ophthalmologic examinations, including electroretinographic testing. These patients are especially good candidates for early cochlear implants, which will improve listening and spoken language skills.
METHODS: Consecutive patients over 2 years of age, given a diagnosis of severe to profound, preverbal hearing loss, were screened for Usher syndrome by a complete ophthalmologic examination including an electroretinogram.
RESULTS: Five of 48 patients screened (10.4%) were diagnosed with Usher syndrome and received cochlear implants.
CONCLUSION: All children with severe to profound, preverbal sensorineural hearing loss should be screened for Usher syndrome by ophthalmologic examination including electroretinogram.

Entities:  

Mesh:

Year:  2000        PMID: 11190026      PMCID: PMC1298229     

Source DB:  PubMed          Journal:  Trans Am Ophthalmol Soc        ISSN: 0065-9533


  23 in total

1.  Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study.

Authors:  B HALLGREN
Journal:  Acta Psychiatr Scand Suppl       Date:  1959

2.  Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

Authors:  S Wayne; V M Der Kaloustian; M Schloss; R Polomeno; D A Scott; J F Hejtmancik; V C Sheffield; R J Smith
Journal:  Hum Mol Genet       Date:  1996-10       Impact factor: 6.150

3.  Standard for clinical electroretinography (1994 update).

Authors:  M F Marmor; E Zrenner
Journal:  Doc Ophthalmol       Date:  1995       Impact factor: 2.379

4.  A prospective, randomized study of cochlear implants. The Department of Veterans Affairs Cochlear Implant Study Group.

Authors:  N L Cohen; S B Waltzman; S G Fisher
Journal:  N Engl J Med       Date:  1993-01-28       Impact factor: 91.245

5.  Genetic heterogeneity of Usher syndrome type II.

Authors:  S Pieke Dahl; W J Kimberling; M B Gorin; M D Weston; J M Furman; A Pikus; C Möller
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

6.  A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

Authors:  M Hmani; A Ghorbel; A Boulila-Elgaied; Z Ben Zina; W Kammoun; M Drira; M Chaabouni; C Petit; H Ayadi
Journal:  Eur J Hum Genet       Date:  1999-04       Impact factor: 4.246

7.  Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

Authors:  E M Sankila; L Pakarinen; H Kääriäinen; K Aittomäki; S Karjalainen; P Sistonen; A de la Chapelle
Journal:  Hum Mol Genet       Date:  1995-01       Impact factor: 6.150

8.  Localization of two genes for Usher syndrome type I to chromosome 11.

Authors:  R J Smith; E C Lee; W J Kimberling; S P Daiger; M Z Pelias; B J Keats; M Jay; A Bird; W Reardon; M Guest
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

9.  A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Authors:  J Kaplan; S Gerber; D Bonneau; J M Rozet; O Delrieu; M L Briard; H Dollfus; I Ghazi; J L Dufier; J Frézal
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

10.  Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

Authors:  R A Lewis; B Otterud; D Stauffer; J M Lalouel; M Leppert
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

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  10 in total

Review 1.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

2.  Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Authors:  Katarina Stingl; Anne Kurtenbach; Gesa Hahn; Christoph Kernstock; Stephanie Hipp; Ditta Zobor; Susanne Kohl; Crystel Bonnet; Saddek Mohand-Saïd; Isabelle Audo; Ana Fakin; Marko Hawlina; Francesco Testa; Francesca Simonelli; Christine Petit; Jose-Alain Sahel; Eberhart Zrenner
Journal:  Doc Ophthalmol       Date:  2019-07-02       Impact factor: 2.379

Review 3.  Cochlear implantation in common forms of genetic deafness.

Authors:  Richard J Vivero; Kenneth Fan; Simon Angeli; Thomas J Balkany; Xue Z Liu
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2010-07-22       Impact factor: 1.675

4.  Outcomes of cochlear implantation in children with Usher syndrome: a long-term observation.

Authors:  Agnieszka Remjasz-Jurek; Pedro Clarós; Astrid Clarós-Pujol; Carmen Pujol; Andrés Clarós
Journal:  Eur Arch Otorhinolaryngol       Date:  2022-10-15       Impact factor: 3.236

5.  "Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I.

Authors:  Magnus Teschner; Juergen Neuburger; Roland Gockeln; Thomas Lenarz; Anke Lesinski-Schiedat
Journal:  Eur Arch Otorhinolaryngol       Date:  2007-12-06       Impact factor: 2.503

6.  Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Authors:  William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith
Journal:  Genet Med       Date:  2010-08       Impact factor: 8.822

7.  The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells.

Authors:  Greta Glover; Kaspar P Mueller; Christian Söllner; Stephan C F Neuhauss; Teresa Nicolson
Journal:  Mol Vis       Date:  2012-09-05       Impact factor: 2.367

8.  Usher's syndrome: Can primarily be a primary ciliary disorder?

Authors:  Swapnil S Kulkarni; Vinaya S Karkhanis; Jyotsna M Joshi
Journal:  Lung India       Date:  2014-07

9.  Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models.

Authors:  Sehrish Haider Khan; Muhammad Rizwan Javed; Muhammad Qasim; Samar Shahzadi; Asma Jalil; Shahid Ur Rehman
Journal:  Bioinformation       Date:  2014-08-30

10.  Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Usher syndrome.

Authors:  Jeffrey N Weiss; Steven Levy
Journal:  Stem Cell Investig       Date:  2019-09-09
  10 in total

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