Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Usher syndrome: a case report].

A Drouet1, B Swalduz, L Guilloton

  • 1Service de Neurologie, Hôpital d'instruction des Armées Desgenettes, Lyon.

Revue Neurologique
|April 19, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Uncommon evolution of glioblastoma: leptomeningeal and extraneural spread in a single patient.

Acta neurologica Belgica·2024
Same author

Performances and limits of Bag-Valve-Device for pre-oxygenation and manual ventilation: A comparative bench and cadaver study.

Resuscitation·2023
Same author

Pseudo-tumour lesion of the brainstem: A case and discussion.

Revue neurologique·2022
Same author

Cervical myelopathy revealing familial KRIT-1-mutated cerebrospinal cavernous malformations.

Revue neurologique·2022
Same author

Ischemic stroke: A not so unusual complication of SMART syndrome?

Revue neurologique·2021
Same author

Bilateral papillitis concomitant with cytomegalovirus primo-infection in an immunocompetent patient.

Revue neurologique·2021
Same journal

Macrophage inclusions in patients undergoing antisense oligonucleotide therapy for ALS or SMA: A retrospective and transversal study.

Revue neurologique·2026
Same journal

Geographic disparities in MRI features of ischemic stroke and small vessel disease: A comparative study between French Guiana and mainland France. Findings from the BECATOUR multicenter registry.

Revue neurologique·2026
Same journal

Continuous subcutaneous perfusion of apomorphine in Parkinson's disease: Towards monotherapy?

Revue neurologique·2026
Same journal

Neuro-Whipple presenting as autoimmune encephalitis.

Revue neurologique·2026
Same journal

Multimodal assessment of minimally conscious state and cognitive motor dissociation in neurocritical care: A critical review.

Revue neurologique·2026
Same journal

Development of a new episodic memory assessment tool (NEM): Preliminary data and clinical perspectives.

Revue neurologique·2026
See all related articles

Usher syndrome type I is a rare genetic disorder causing hearing and vision loss. This case highlights the potential for brain involvement, including cerebellar atrophy, in individuals with this condition.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Usher syndrome type I is an autosomal recessive disorder.
  • Characterized by congenital sensorineural hearing loss and retinitis pigmentosa.
  • Often associated with vestibular areflexia.

Observation:

  • A 60-year-old Jewish woman with consanguineous parents presented with lifelong severe sensorineural hearing loss.
  • Progressive visual impairment due to pigmentary retinopathy, worsening over the last 15 years.
  • Diagnosis confirmed as Usher syndrome type I.

Findings:

  • The patient's hearing loss was stable since childhood.
  • Visual impairment significantly worsened.
  • Neuroimaging revealed cerebellar atrophy, suggesting brain involvement.

Related Experiment Videos

Implications:

  • This case underscores the heterogeneous nature of Usher syndrome type I.
  • Highlights the potential for neurological complications, including cerebellar atrophy.
  • Suggests a broader spectrum of disease involvement beyond auditory and visual systems.