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Treatment strategies for Leber hereditary optic neuropathy
Open accessAbstract
Purpose of review: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population and it carries a poor visual prognosis. In this article, we review the development of treatment strategies for LHON, the evidence base and the areas of unmet clinical need. Recent findings: There is accumulating evidence that increasing mitochondrial biogenesis could be an effective strategy for protecting retinal ganglion cells in LHON. A number of clinical trials are currently investigating the efficacy of viral-based gene therapy for patients harbouring the m.11778G>A mtDNA mutation. For female LHON carriers of childbearing age, mitochondrial replacement therapy is being offered to prevent the maternal transmission of pathogenic mtDNA mutations. Summary: Although disease-modifying treatment options remain limited, a better understanding of the underlying disease mechanisms in LHON is paving the way for complementary neuroprotective and gene therapeutic strategies for this mitochondrial optic nerve disorder.
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“Current treatments for LHON remain inadequate.8 Idebenone (Raxone, Santhera GmbH) was granted market authorization by the European Medicines Agency (EMA) for the treatment of LHON under exceptional circumstances, 9,10 but its benefits are limited.”
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 [8]
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“Current treatments for LHON remain inadequate.(8) Idebenone (Raxone, Santhera GmbH) was granted market authorization by the European Medicines Agency (EMA) for the treatment of LHON under exceptional circumstances,(9,10) but its benefits are limited.”
BackgroundSelf-citationNewman, N. J., Carelli, V., Taiel, M., & Yu-Wai-Man, P. (2020) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000001045 · Cited by 111
Self-citationMoster, M. L., Sergott, R. C., Newman, N. J., Yu-Wai-Man, P., Carelli, V., Bryan, M. S., Smits, G., Biousse, V., Vignal-Clermont, C., Klopstock, T., et al. (2021) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000001316 · Cited by 7
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Metadata
- Authors
- Jurkute, N., Harvey, J., & Yu-Wai-Man, P.
- Affiliations
- NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology
- NIHR Moorfields Biomedical Research Centre (GB)
- ORCID
- Harvey, Joshua
- Venue
- Current Opinion in Neurology
- Published
- 2019-02
- Volume
- 32
- Issue
- 1
- Pages
- 99-104
- ISSN
- 1350-7540 (ISSN-L)
- 1473-6551
- OpenAlex
- W2905060112
- Cited by
- 38
- References
- 50
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2023: 1 · 2022: 6 · 2021: 9 · 2020: 9 · 2019: 6
- FWCI
- 0.59
- Type
- journal article
- Language
- en
- Open access
- green
- discovery.ucl.ac.uk
- Locations
- Current Opinion in Neurology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
- Life Sciences › Neuroscience › Neurology › Neuroprotection in Cerebral Ischemia
- Keywords
- Leber's hereditary optic neuropathy, mitochondrial DNA mutations, m.11778G>A mutation, mitochondrial biogenesis, gene therapy, mitochondrial replacement therapy, neuroprotection, disease-modifying therapy
- MeSH terms
- DNA, Mitochondrial, Humans, Mutation, Genetic Therapy, Optic Atrophy, Hereditary, Leber
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