Literature DB >> 6604514

Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.

G A Fishman, A Kumar, M E Joseph, N Torok, R J Anderson.   

Abstract

The conditions of 70 patients with Usher's syndrome were studied by ophthalmic and neuro-otologic examinations. Two distinct clinical and presumed genetic types were discernible on the basis of differences in hearing impairment, vestibular sensitivity, and, to a lesser extent, deterioration in retinal photoreceptor function. Distinguishing these two types has relevance for both diagnosis and genetic counseling of patients with Usher's syndrome.

Entities:  

Mesh:

Year:  1983        PMID: 6604514     DOI: 10.1001/archopht.1983.01040020369005

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  25 in total

1.  Usher syndrome in the city of Birmingham--prevalence and clinical classification.

Authors:  C I Hope; S Bundey; D Proops; A R Fielder
Journal:  Br J Ophthalmol       Date:  1997-01       Impact factor: 4.638

Review 2.  Pre-mRNA splicing and retinitis pigmentosa.

Authors:  Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu
Journal:  Mol Vis       Date:  2006-10-26       Impact factor: 2.367

3.  USH1A: chronicle of a slow death.

Authors:  Sylvie Gerber; Dominique Bonneau; Brigitte Gilbert; Arnold Munnich; Jean-Louis Dufier; Jean-Michel Rozet; Josseline Kaplan
Journal:  Am J Hum Genet       Date:  2006-02       Impact factor: 11.025

4.  Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.

Authors:  George Trichonas; Elias I Traboulsi; Justis P Ehlers
Journal:  Ophthalmic Genet       Date:  2016-11-23       Impact factor: 1.803

5.  Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

Authors:  D Bonneau; F Raymond; C Kremer; J M Klossek; J Kaplan; F Patte
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

6.  Increased risk of autoimmune hypothyroidism in patients affected by retinitis pigmentosa.

Authors:  G Scanelli; L Dattola; F Padovani
Journal:  J Endocrinol Invest       Date:  1996-03       Impact factor: 4.256

7.  Early diagnosis of Usher syndrome in children.

Authors:  M B Mets; N M Young; A Pass; J B Lasky
Journal:  Trans Am Ophthalmol Soc       Date:  2000

8.  Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

Authors:  J R Heckenlively; B Chang; L C Erway; C Peng; N L Hawes; G S Hageman; T H Roderick
Journal:  Proc Natl Acad Sci U S A       Date:  1995-11-21       Impact factor: 11.205

9.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

10.  Coats-like lesions in Usher syndrome type II.

Authors:  Hayyam Kiratli; Cem Oztürkmen
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2003-12-03       Impact factor: 3.117

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