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

Leber's hereditary optic neuropathy - Case report.

Raluca Eugenia Iorga1, Ruxandra Mihailovici1,2, Manuela Ramona Ozturk2

  • 1Department of Ophthalmology, "N. Oblu" Clinical Emergency Hospital, Iaşi, Romania.

Romanian Journal of Ophthalmology
|May 26, 2018
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

Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.

Life (Basel, Switzerland)·2025
Same author

Review of Guideline Recommendations for Optimal Anti-VEGF Therapy in Age-Related Macular Degeneration.

Life (Basel, Switzerland)·2024
Same author

Non-Invasive Retinal Vessel Analysis as a Predictor for Cardiovascular Disease.

Journal of personalized medicine·2024
Same author

A challenging differential diagnosis - Leber's Hereditary Optic Neuropathy.

Romanian journal of ophthalmology·2024
Same author

Current trends in targeting the oxidative stress in glaucoma (Review).

European journal of ophthalmology·2023
Same author

Drug-Loaded Polymeric Particulated Systems for Ophthalmic Drugs Release.

Molecules (Basel, Switzerland)·2022

Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial disease causing vision loss. Genetic testing identified the 3460 G>A mutation in two brothers, confirming LHON and enabling targeted idebenone treatment.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, causing subacute, bilateral vision loss in young adults.
  • LHON is rare, often leading to misdiagnosis and delayed treatment due to its varied presentation.
  • Diagnostic workup typically involves a series of tests to confirm LHON or rule out other conditions.

Observation:

  • Two brothers, aged 40 and 38, presented with decreased visual acuity in both eyes.
  • Previous diagnosis of optic atrophy of unknown cause and ineffective treatments (corticosteroids, antioxidants, vasodilators) were noted.
  • Further investigations included mitochondrial DNA analysis, MRI, and OCT of the optic nerve and macula.

Findings:

  • Mitochondrial DNA analysis revealed the 3460 G>A mutation in the mtND1 gene in both patients.
Keywords:
Leber’s hereditary optic neuropathyidebenonemitochondrial DNA testoptic coherence tomography

Related Experiment Videos

  • Combined clinical history, fundus examination, OCT, and genetic findings confirmed the diagnosis of LHON.
  • Treatment with idebenone was initiated, with patient evaluation after three months.

    • Implications:

    • Accurate genetic diagnosis of LHON is crucial for appropriate management.
    • Targeted therapy with idebenone offers a potential treatment strategy for LHON patients.
    • Early identification and treatment can potentially improve visual outcomes in LHON.