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's syndrome].

M Zemba1, L David, Veronica Bobeico

  • 1Clinica de Oftalmologie, Spitalul Clinic de Urgentă Militar Central.

Oftalmologia (Bucharest, Romania : 1990)
|December 16, 2004
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

Comparative species distribution model framework for marine conservation and its application to loggerhead turtles in the Mediterranean.

Conservation biology : the journal of the Society for Conservation Biology·2026
Same author

Achievement of a physiological birth: insights from a qualitative study on women's motivations and decisions.

Sexual & reproductive healthcare : official journal of the Swedish Association of Midwives·2026
Same author

From juveniles to adults: Ontogenetic and seasonal patterns of loggerhead turtles in oceanic Mediterranean habitats.

Marine environmental research·2026
Same author

Focus on therapeutic peptides and their delivery.

International journal of pharmaceutics·2025
Same author

Symmetric expression of ohnologs encoding conserved antiviral responses in tetraploid common carp suggest absence of subgenome dominance after whole genome duplication.

Genomics·2023
Same author

Janus kinase inhibitors for the treatment of atopic dermatitis: Real-life data on efficacy and safety in light of the Pharmacovigilance Risk Assessment Committee recommended measures.

Journal of the European Academy of Dermatology and Venereology : JEADV·2023
Same journal

[Macular serpiginous choroiditis complicated by macular hole].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Therapeutic approach in persistent diabetic macular edema].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Preliminary results of treatment with aflibercept].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

MANAGEMENT OF DIABETIC RETINOPATHY, PREVALENCE AND CLINICAL CLASSIFICATION.

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Changes in intraocular pressure depending on posture].

Oftalmologia (Bucharest, Romania : 1990)·2015
Same journal

[Treatment for penetrating wound caused by metallic intraocular foreign body].

Oftalmologia (Bucharest, Romania : 1990)·2015
See all related articles

Diagnosing Usher syndrome requires identifying both retinitis pigmentosa and neurosensorial deafness, often confirmed by genetic testing. Treating associated eye conditions like cataracts can improve vision.

Area of Science:

  • Ophthalmology
  • Genetics
  • Audiology

Background:

  • Usher syndrome is a genetic disorder characterized by hearing loss and progressive vision impairment.
  • Accurate diagnosis is crucial for management and genetic counseling.
  • Ocular and auditory examinations are key diagnostic components.

Observation:

  • Ophthalmological and ENT clinical examinations were performed.
  • Diagnostic tests included visual field testing, adaptometry, audiometry, impedance testing, and auditory evoked potentials.
  • Cataract extraction via phacoemulsification was a treatment considered.

Findings:

  • Post-cataract extraction, a notable increase in visual acuity was observed.
  • Diagnosis necessitates confirmation of both retinitis pigmentosa and neurosensorial deafness.

Related Experiment Videos

  • Genetic testing provides certainty in Usher syndrome diagnosis.

    • Implications:

    • Early and accurate diagnosis of Usher syndrome is essential for timely intervention.
    • Management of associated ocular pathologies, such as cataracts, can significantly enhance visual function.
    • Understanding the genetic basis aids in family planning and prognosis.