ArticleAmerican journal of human genetics2003
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 192 papers, 5 of them syntheses that pooled it.
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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
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Who cites it
192 citing papers in PubMed, 5 syntheses or guidelines pooled it, 479 citations in OpenAlex.
- Pooled it
- Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.BioMed research international · 2023Pooled it
- Pooled it
- Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development.Advances in therapy · 2019Pooled it
- Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.Neurology · 2013Pooled it
- Rasch analysis of the NEI-VFQ-25: vision-related quality of life in Leber hereditary optic neuropathy after lenadogene nolparvovec gene therapy.BMJ open ophthalmology · 2025Trial
- Trial
- Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.Orphanet journal of rare diseases · 2018Trial
- A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.Brain : a journal of neurology · 2011Trial
- Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population.Journal of applied genetics · 2026Article
- A Heteroplasmic MT-CO2 m.8024G > A Variant Is Associated with Mitochondrial Bioenergetic Deficiency and Optic Atrophy.Molecular neurobiology · 2026Article
- Molecular Mechanism of Mitochondrial Complex I Disruption by m.14484T>C Underlying Leber Hereditary Optic Neuropathy.bioRxiv : the preprint server for biology · 2026Article
- Visual Loss from Leber's Optic Neuropathy Presenting in a 76-Year-Old Man with the 14484 Mutations.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Health-related quality of life and tobacco and alcohol consumption in Leber hereditary optic neuropathy in Sweden.Frontiers in ophthalmology · 2026Article
- Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales.Eye (London, England) · 2025Article
- Correlation of Structure With Function: Future Utilities for Optical Coherence Tomography Angiography in Neuro-Ophthalmology.Clinical & experimental ophthalmology · 2025Review
- Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.American journal of human genetics · 2025Article
- The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants.American journal of ophthalmology case reports · 2025Article
- Alterations in ganglion cell and nerve fiber layer in Leber hereditary optic neuropathy across clinical stages.BMC ophthalmology · 2025Article
- Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
132 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
We performed the first population-based clinical and molecular genetic study of Leber hereditary optic neuropathy (LHON) in a population of 2,173,800 individuals in the North East of England. We identified 16 genealogically unrelated families who harbor one of the three primary mitochondrial DNA (mtDNA) mutations that cause LHON. Two of these families were found to be linked genetically to a common maternal founder. A de novo mtDNA mutation (G3460A) was identified in one family. The minimum point prevalence of visual failure due to LHON within this population was 3.22 per 100,000 (95% CI 2.47-3.97 per 100,000), and the minimum point prevalence for mtDNA LHON mutations was 11.82 per 100,000 (95% CI 10.38-13.27 per 100,000). These results indicate that LHON is not rare but has a population prevalence similar to autosomally inherited neurological disorders. The majority of individuals harbored only mutant mtDNA (homoplasmy), but heteroplasmy was detected in approximately 12% of individuals. Overall, however, approximately 33% of families with LHON had at least one heteroplasmic individual. The high incidence of heteroplasmy in pedigrees with LHON raises the possibility that a closely related maternal relative of an index case may not harbor the mtDNA mutation, highlighting the importance of molecular genetic testing for each maternal family member seeking advice about their risks of visual failure.
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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.