Literature DB >> 476030

Dark adaptation testing in heterozygotes of Usher's syndrome.

S Sondheimer, G A Fishman, R S Young, V A Vasquez.   

Abstract

Fourteen heterozygous carriers of Usher's syndrome were evaluated by ophthalmoscopy and dark adaptation testing. The normal findings in our study are discussed and compared with those of previous reports, which suggested that abnormal dark adaptation thresholds and fundus abnormalities may be seen in heterozygotes.

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Mesh：

Year:  1979        PMID： 476030      PMCID： PMC1043546          DOI： 10.1136/bjo.63.8.547

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  6 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.  Rod and cone vision in retinitis pigmentosa.

Authors:  G WALD; B H ZEAVIN
Journal:  Am J Ophthalmol       Date:  1956-10       Impact factor: 5.258

3.  An evaluation of genetic carriers of Usher's syndrome.

Authors:  M G Holland; E Cambie; W Kloepfer
Journal:  Am J Ophthalmol       Date:  1972-11       Impact factor: 5.258

Review 4.  Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey.

Authors:  M Vernon
Journal:  J Chronic Dis       Date:  1969-08

5.  Usher's syndrome, with special reference to heterozygous manifestations.

Authors:  E B de Haas; G H van Lith; J Rijnders; A M Rümke; C Volmer
Journal:  Doc Ophthalmol       Date:  1970-07-24       Impact factor: 2.379

6.  The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome).

Authors:  H W Kloepfer; J K Laguaite
Journal:  Laryngoscope       Date:  1966-05       Impact factor: 3.325
  6 in total
  4 in total

1.  Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.

Authors:  P Kenna; F Mansergh; S Millington-Ward; A Erven; R Kumar-Singh; R Brennan; G J Farrar; P Humphries
Journal:  Br J Ophthalmol       Date:  1997-03       Impact factor: 4.638

2.  Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy.

Authors:  Pasqualina Colella; Andrea Sommella; Elena Marrocco; Umberto Di Vicino; Elena Polishchuk; Marina Garcia Garrido; Mathias W Seeliger; Roman Polishchuk; Alberto Auricchio
Journal:  PLoS One       Date:  2013-08-26       Impact factor: 3.240

3.  Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD.

Authors:  Peter A Perrino; Dianne F Newbury; R Holly Fitch
Journal:  Genes (Basel)       Date:  2021-01-24       Impact factor: 4.096

4.  A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies.

Authors:  Kaitlyn R Calabro; Sanford L Boye; Shreyasi Choudhury; Diego Fajardo; James J Peterson; Wei Li; Sean M Crosson; Mi-Jung Kim; Dalian Ding; Richard Salvi; Shinichi Someya; Shannon E Boye
Journal:  Front Neurosci       Date:  2019-11-22       Impact factor: 5.152
  4 in total

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