ArticleEye (London, England)2022
Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.
Article in Eye (London, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled 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
- Functional and structural analysis in relation to age at onset of Leber hereditary optic neuropathy: a Swedish cohort.Eye (London, England) · 2026Article
- Archetypal Visual Field Analysis of Patients With Chronic Leber Hereditary Optic Neuropathy in Relation to Visual Recovery.Investigative ophthalmology & visual science · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Advanced therapies for inherited optic neuropathies.Eye (London, England) · 2026Review
- Leber's Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Ten-year natural history of visual function in Japanese patients with Leber hereditary optic neuropathy: A retrospective cohort study.PloS one · 2026Observational
- Optimized ND4 allotopic expression for gene therapy of Leber's hereditary optic neuropathy.Frontiers in bioengineering and biotechnology · 2026Article
- Visual Loss from Leber's Optic Neuropathy Presenting in a 76-Year-Old Man with the 14484 Mutations.Neuro-ophthalmology (Aeolus Press) · 2026Article
- 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
- Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.Life (Basel, Switzerland) · 2025Article
- Early Macular Ganglion Cell Loss in Leber Hereditary Optic Neuropathy, an Optical Coherence Tomography Biomarker to Differentiate Optic Neuritis.Journal of clinical medicine · 2025Article
- Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.Journal of inherited metabolic disease · 2025Article
- Technological advances in the diagnosis and management of inherited optic neuropathies.Frontiers in neurology · 2025Review
- Age-Associated Differences in Optic Disc Findings of Leber's Hereditary Optic Neuropathy.Neuro-ophthalmology (Aeolus Press) · 2025Article
- Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy.Investigative ophthalmology & visual science · 2024Article
- Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.Cell reports. Medicine · 2024Article
- Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures.American journal of ophthalmology · 2024Article
- Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.Cells · 2023Review
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
BACKGROUND/
objectivesREALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON). SUBJECTS/
methodsDemographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United States of America and Europe. The collection period extended from the presymptomatic stage to at least more than one year after onset of vision loss (chronic stage). A Locally Weighted Scatterplot Smoothing (LOWESS) local regression model was used to analyse the evolution of best-corrected visual acuity (BCVA) over time.
results44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutation, 8 (18%) carried the m.3460G>A ND1 mutation, and 9 (20%) carried the m.14484T>C ND6 mutation. Fourteen (32%) patients were under 18 years old at onset of vision loss and 5 (11%) were below the age of 12. The average duration of follow-up was 32.5 months after onset of symptoms. At the last observed measure, mean BCVA was 1.46 LogMAR in ND4 patients, 1.52 LogMAR in ND1 patients, and 0.97 LogMAR in ND6 patients. The worst visual outcomes were reported in ND4 patients aged at least 15 years old at onset, with a mean BCVA of 1.55 LogMAR and no tendency for spontaneous recovery. The LOESS modelling curve depicted a severe and permanent deterioration of BCVA.
conclusionsAmongst LHON patients with the three primary mtDNA mutations, adult patients with the m.11778G>A ND4 mutation had the worst visual outcomes, consistent with prior reports.
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