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International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy
Open accessAbstract
Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000–45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone–Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease. However, what remains unclear includes the optimal target population, timing, dose, and frequency of administration of idebenone in LHON due to lack of accepted definitions, criteria, and general guidelines for the clinical management of LHON. To address these issues, a consensus conference with a panel of experts from Europe and North America was held in Milan, Italy, in 2016. The intent was to provide expert consensus statements for the clinical and therapeutic management of LHON based on the currently available evidence. We report the conclusions of this conference, providing the guidelines for clinical and therapeutic management of LHON.
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The m.11778G>A mutation is the most common LHON mutation, accounting for about 70% of LHON in North America and Europe.
“The m.11778G>A mutation is the most common LHON mutation, accounting for about 70% of LHON in North America and Europe.1,3,4”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [1]
The Introduction (page unavailable) identifies m.11778G>A as one of three common LHON mutations that together account for about 90% of cases. It does not say that m.11778G>A is the most common, or that it alone accounts for about 70% of cases in North America and Europe. (LLM, conf=0.88)
Experimental — accuracy not yet measuredA group of experts endorsed the use of clinically relevant recovery as a valid outcome measure when assessing the effect of treatment with idebenone in LHON.
“A group of experts also endorsed the use of CRR as a valid outcome measure when assessing the effect of treatment with idebenone in LHON. 1”
From Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset (2021) · cites this paper as [1]
Leber hereditary optic neuropathy (LHON) is a blinding maternally-inherited mitochondrial genetic disease.
“Leber hereditary optic neuropathy (LHON) is a blinding maternally-inherited mitochondrial genetic disease.”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [1]
Retinal ganglion cells (RGCs), whose axons form the optic nerve, are the major cellular target affected by the mitochondrial dysfunction in LHON.
“Retinal ganglion cells (RGCs), whose axons form the optic nerve, are the major cellular target affected by the resultant mitochondrial dysfunction.1”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [1]
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References 56 · Cited by 228
Metadata
- Authors
- Carelli, V., Carbonelli, M., de Coo, I. F., Kawasaki, A., Klopstock, T., Lagrèze, W. A., La Morgia, C., Newman, N. J., Orssaud, C., Pott, J. W. R., Sadun, A. A., van Everdingen, J., Vignal-Clermont, C., Votruba, M., Yu-Wai-Man, P., & Barboni, P.
- ORCID
- Venue
- Journal of Neuro-Ophthalmology
- Published
- 2017-12
- Volume
- 37
- Issue
- 4
- Pages
- 371-381
- ISSN
- 1070-8022 (ISSN-L)
- OpenAlex
- W2763147200
- Cited by
- 228
- References
- 56
- Citations by year
- 2026: 16 · 2025: 19 · 2024: 33 · 2023: 29 · 2022: 41 · 2021: 30 · 2020: 23 · 2019: 16 · 2018: 17 · 2017: 2
- FWCI
- 6.48
- Type
- journal article
- Language
- en
- Open access
- green
- research.rug.nl
- Licence
- other-oa
- Locations
- Journal of Neuro-Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (acceptedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- IRIS (submittedVersion)
- DZNE Pub (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Coenzyme Q10 studies and effects
- Life Sciences › Neuroscience › Neurology › Neuroprotection in Cerebral Ischemia
- Keywords
- Leber's hereditary optic neuropathy, idebenone, mitochondrial disease, clinical management, treatment guidelines, natural history (disease), optic neuropathy
- MeSH terms
- Antioxidants, Congresses as Topic, Humans, International Cooperation, Ophthalmology, Societies, Medical, Ubiquinone, Disease Management, Optic Atrophy, Hereditary, Leber, Consensus
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