Literature DB >> 6334472

Vestibular and auditory function in Usher's syndrome.

A Kumar, G Fishman, N Torok.   

Abstract

Usher's syndrome is a recessive hereditary disorder in which a congenital hearing loss is combined with nyctalopia, retinal degeneration, and restriction of visual fields. The results of a comprehensive ophthalmic and neurotologic study on 70 patients are reported. Two distinct clinical and presumed genetic types were discernible on the basis of hearing impairment and vestibular sensitivity and, to a lesser extent, deterioration of retinal photoreceptor function. Such a classification has proved valuable in diagnosis, prognosis, and genetic counselling.

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Year:  1984        PMID: 6334472     DOI: 10.1177/000348948409300613

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN: 0003-4894            Impact factor:   1.547


  8 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.  Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Authors:  Denise Yan; Xiaomei Ouyang; D Michael Patterson; Li Lin Du; Samuel G Jacobson; Xue-Zhong Liu
Journal:  J Hum Genet       Date:  2009-10-30       Impact factor: 3.172

3.  Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.

Authors:  Kavitha Ratnam; Hanna Västinsalo; Austin Roorda; Eeva-Marja K Sankila; Jacque L Duncan
Journal:  JAMA Ophthalmol       Date:  2013-01       Impact factor: 7.389

4.  Cochlear implantation in multi-handicapped patients: the merf experience.

Authors:  Mohan Kameshwaran; Anand Kumar; Kiran Natarajan; Dilip Raghavan; Jawahar Nagasund Aram; Jeeth Isaac Jacob
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2006-04

5.  Retinitis pigmentosa and deafness.

Authors:  R P Mills; D M Calver
Journal:  J R Soc Med       Date:  1987-01       Impact factor: 18.000

6.  Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Authors:  Raquel Pérez-Carro; Fiona Blanco-Kelly; Lilián Galbis-Martínez; Gema García-García; Elena Aller; Blanca García-Sandoval; Pablo Mínguez; Marta Corton; Ignacio Mahíllo-Fernández; Inmaculada Martín-Mérida; Almudena Avila-Fernández; José M Millán; Carmen Ayuso
Journal:  PLoS One       Date:  2018-06-18       Impact factor: 3.240

7.  A rare case of type 3 usher syndrome with bilateral cystoid macular edema treated with topical dorzolamide.

Authors:  Athul Puthalath; Ramanuj Samanta; Neeraj Saraswat; Ajai Agrawal; Anupam Singh; Mahsa Jamil
Journal:  Taiwan J Ophthalmol       Date:  2020-04-21

8.  High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Authors:  Carla Fuster-García; Gema García-García; Teresa Jaijo; Neus Fornés; Carmen Ayuso; Miguel Fernández-Burriel; Ana Sánchez-De la Morena; Elena Aller; José M Millán
Journal:  Sci Rep       Date:  2018-11-20       Impact factor: 4.379

  8 in total

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