Usher's syndrome.

نویسندگان

  • Maria Carolina Braga Norte
  • Antônio José Cortez Juares
  • José Carlos Nardi
  • Alfredo Rafael Dell'Aringa
  • Kazue Kobari
چکیده

Usher’s syndrome is an autossomal recessive disease characterized by pigmentary retinopathy (PR) and bilateral sensorineural hypoacusis. Von Graefe and Liebreich were the first to publish a paper describing the association between PR and deafness. The incidence is 3 to 4.4 per 100,000 people. The prevalence is 3% to 6% among auditory impaired people.4 It may be subdivided into four types of which the type II is the mildest form. Patients present with slowly progressive moderate bilateral sensorineural dysacusis that predominantly affects high frequencies; there is preservation of vestibular function. PR begins in adolescents or in young adults.1 The aim of this study was to describe and analyze the clinical presentation of Usher’s syndrome and to compare these findings with the current literature. We described a clinical case of a 33-year-old patient that presented with the type II of Usher’s syndrome. The patient signed a free informed consent form before participating in the study, according to the Resolution 196/96 CNS/MS.

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منابع مشابه

[Visual acuity and full-field electroretinography in patients with Usher's syndrome].

PURPOSE Usher's syndrome (US) is a group of genetically distinct autosomal conditions, characterized by sensorineural hearing loss accompanied by a retinal dystrophy indistinguishable from retinitis pigmentosa (RP). The purpose of this study was to analyze full-field electroretinography (ERG) and visual acuity (VA) among patients with type I and II Usher's syndrome. METHODS Electroretinograph...

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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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Visual loss and foveal lesions in Usher's syndrome.

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CNS changes in Usher's syndrome with mental disorder: CT, MRI and PET findings.

CNS changes in a case of Usher's syndrome associated with schizophrenia-like mental disorder were observed by CT, MRI and PET. The neuro-radiological findings of the case demonstrate the degenerative and metabolic alterations in various regions of cortex, white matter and subcortical areas in the brain. Mental disorder of the case is almost indistinguishable from that of schizophrenia, but the ...

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عنوان ژورنال:
  • Brazilian journal of otorhinolaryngology

دوره 73 4  شماره 

صفحات  -

تاریخ انتشار 2007