ReviewFrontiers in ophthalmology2022
Leber's hereditary optic neuropathy: Update on current diagnosis and treatment.
Review in Frontiers in ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Mitochondrial ROS in Retinal Neurodegeneration: Thresholds, Quality Control Failure, and Precision Therapeutic Windows.Biomolecules · 2026Review
- Molecular Mechanism of Mitochondrial Complex I Disruption by m.14484T>C Underlying Leber Hereditary Optic Neuropathy.bioRxiv : the preprint server for biology · 2026Article
- Magnetically guided neurite outgrowth modulated by PIEZO1 in hiPSC-derived retinal ganglion cells.Materials today. Bio · 2025Article
- In vivo mitochondrial base editing restores genotype and visual function in a mouse model of LHON.Nature communications · 2025Article
- Absolute quantification of TCA cycle intermediates in mouse ocular tissues reveals distinct tissue- and sex-specific mitochondrial metabolism.bioRxiv : the preprint server for biology · 2025Article
- Advances in Management of Mitochondrial Myopathies.International journal of molecular sciences · 2025Review
- Review
- An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy.Scientific reports · 2025Article
- Childhood Blindness: A Rare Case of Leber Hereditary Optic Neuropathy in a 16-Year-Old Egyptian Patient.Cureus · 2024Article
- Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy.Investigative ophthalmology & visual science · 2024Article
- Mitochondrial Chronic Progressive External Ophthalmoplegia.Brain sciences · 2024Review
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Progressive Visual Recovery in a Patient with Leber Hereditary Optic Neuropathy Harboring a Rare Heteroplasmic (MT-ND5):m.13042G>A, p(Ala236Thr) Variant with Low Mutant Load: A Case Report.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leber's hereditary optic neuropathy (LHON) is a fairly prevalent mitochondrial disorder (1:50,000) arising from the dysfunction of the mitochondrial respiratory chain, which eventually leads to apoptosis of retinal ganglion cells. The usual presentation is that of a young male with a sequential reduction in visual acuity. OCT has been used to study the pattern of optic nerve involvement in LHON, showing early thickening of the inferior and superior retinal nerve fibre layer and ganglion cell layer thinning corresponding with the onset of symptoms. Of the three primary mutations for LHON, the m.14484T>C mutation has the best visual prognosis. Recent emerging therapeutic options for LHON include idebenone and the introduction of genetic vector therapy, which is currently in phase III clinical trials. Screening of family members and adequate advice to avoid environmental triggers, such as smoking and alcohol consumption, are also cornerstones in the management of LHON.
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