ReviewJournal of medical genetics2002
Leber hereditary optic neuropathy.
Review in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05555784 (Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy), which is not on this map. Cited by 173 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection
Who cites it
173 citing papers in PubMed, 5 syntheses or guidelines pooled it, 507 citations in OpenAlex.
- The role of autophagy in ocular health: mechanisms, pathologies, and therapeutic strategies.Biology direct · 2026Pooled it
- Pooled it
- Pooled it
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.The journal of international advanced otology · 2020Pooled it
- Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.Neurology · 2013Pooled it
- Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial.Medicine · 2016Trial
- Metformin promotes mitochondrial integrity through AMPK-signaling in Leber's hereditary optic neuropathy.FEBS open bio · 2026Article
- Article
- Systematic genomic Mendelian randomization profiling of early molecular markers of optic atrophy.International journal of ophthalmology · 2026Article
- A Case Report of Late-Onset Leber's Hereditary Optic Neuropathy Diagnosed Following Vision Loss After Cataract Surgery.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Sterile inflammation in LHON: mitochondrial stress, innate immune signaling, and implications for AAV gene therapy.Frontiers in immunology · 2026Review
- Visual Loss from Leber's Optic Neuropathy Presenting in a 76-Year-Old Man with the 14484 Mutations.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Differentiating Leber's Hereditary Optic Neuropathy from Optic Neuritis in a Clinical Setting.Annals of Indian Academy of Neurology · 2025Article
- Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber's hereditary optic neuropathy patient-derived fibroblasts.Human molecular genetics · 2025Article
- Multiple sclerosis severity variant iniScience · 2025Article
- Review
- Mitogenome of Neolissochilus pnar, the largest cavernicolous species of Mahseer.Scientific reports · 2025Article
- Article
- Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants.Frontiers in neurology · 2025Article
- Diagnostic dilemma: Leber's hereditary optic neuropathy in a 70-year-Old woman.American journal of ophthalmology case reports · 2024Article
113 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the British population. It is characterised by bilateral subacute loss of central vision owing to focal degeneration of the retinal ganglion cell layer and optic nerve. Over 95% of LHON cases are primarily the result of one of three mitochondrial DNA (mtDNA) point mutations, G3460A, G11778A, and T14484C, which all involve genes encoding complex I subunits of the respiratory chain. An intriguing feature of LHON is that only approximately 50% of males and approximately 10% of females who harbour a pathogenic mtDNA mutation actually develop the optic neuropathy. This marked incomplete penetrance and gender bias imply that additional mitochondrial and/or nuclear genetic factors must be modulating the phenotypic expression of LHON. It is also likely that environmental factors contribute to the onset of visual failure. However, these secondary precipitating factors remain poorly defined at present. In this review, we describe the natural history of this optic nerve disorder and highlight issues relating to clinical diagnosis, management, and genetic counselling. We also discuss the findings of recently published studies and the light they shed on the complex aetiology and pathophysiology of LHON.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.