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

Familial isolated unilateral large vestibular aqueduct syndrome.

Rafael Ramírez-Camacho1, José Ramón García Berrocal, Beatriz Arellano

  • 1Grupo de Investigación Otológica, Servicio de Otorrinolaringología, Clínica Puerta de Hierro, Madrid, España. rramirezc@seorl.org

ORL; Journal for Oto-Rhino-Laryngology and Its Related Specialties
|March 8, 2003
PubMed
Summary

Large vestibular aqueduct syndrome (LVAS) can cause hearing loss. This study identifies a rare familial form of unilateral LVAS, suggesting a novel genetic cause for this inner ear malformation.

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

Bortezomib-Induced Sensorineural Hearing Loss May Be Reversible with Intratympanic Dexamethasone.

Hematology reports·2026
Same author

Audiological evaluation (128-20,000Hz) in women with autoimmune thyroiditis: The role of antibodies vs. l-thyroxine deficiency.

Acta otorrinolaringologica espanola·2023
Same author

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Scientific reports·2020
Same author

Update on consensus on diagnosis and treatment of idiopathic sudden sensorineural hearing loss.

Acta otorrinolaringologica espanola·2018
Same author

Azathioprine reduces the risk of audiometric relapse in immune-mediated hearing loss.

Acta otorrinolaringologica espanola·2018
Same author

pH-sensitive polymeric nanoparticles with antioxidant and anti-inflammatory properties against cisplatin-induced hearing loss.

Journal of controlled release : official journal of the Controlled Release Society·2017

Area of Science:

  • Otolaryngology
  • Genetics
  • Developmental Biology

Background:

  • Large vestibular aqueduct syndrome (LVAS) is a common inner ear malformation often linked to hearing loss.
  • While typically bilateral, unilateral cases have been noted, but rarely with distinct familial patterns.

Observation:

  • A family presented with two siblings exhibiting unilateral sensorineural hearing loss and ipsilateral LVAS.
  • This presentation followed an autosomal recessive inheritance pattern, distinguishing it from typical LVAS cases.

Findings:

  • Genetic analysis of common genes (GJB2, PDS, mitochondrial 12sRNA) did not reveal causative mutations.
  • The study suggests a potential novel genetic basis for this specific unilateral LVAS presentation.

Implications:

Related Experiment Videos

  • This finding expands the understanding of LVAS heterogeneity and inheritance patterns.
  • Further research into the genetic and embryological origins of unilateral LVAS is warranted.