ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2025
Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Development of Arginine Stearate-Based Solid Lipid Nanoparticles for Enhanced Idebenone Delivery: In Vitro Evaluation on Glioblastoma Model.Molecules (Basel, Switzerland) · 2026Article
- Strategic Targeting of Mitochondria: Bridging Biology and Therapy for Health Benefits.Cell biochemistry and biophysics · 2026Review
- Oxidative Stress and Inflammatory Biomarkers in Aqueous Humor and Blood of Patients with Leber's Hereditary Optic Neuropathy.Antioxidants (Basel, Switzerland) · 2025Article
- Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition).Translational pediatrics · 2025Review
- Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales.Eye (London, England) · 2025Article
- Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.Current issues in molecular biology · 2025Review
- A Personal Scientific Journey in Ophthalmology: Twenty-Five Years of Translating Research into Novel Therapies.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity.International journal of molecular sciences · 2025Review
- Idebenone: Clinical Potential Beyond Neurological Diseases.Drug design, development and therapy · 2025Review
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3 authors.
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Abstract
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease, and was the first to be linked to mitochondrial DNA (mtDNA) variations. Recently, autosomal recessive forms of LHON were described in addition to the classical mtDNA-associated forms. Clinically, LHON manifests with subacute and painless loss of central visual acuity, in most cases starting unilaterally, and involving the second eye a few weeks later. Almost all LHON cases are caused by pathogenic variants in genes that code for proteins relevant for function of Complex I of the respiratory chain. The Complex I dysfunction in LHON leads to decreased ATP synthesis and to increased production of reactive oxygen species which ultimately initiates dysfunction and apoptosis of retinal ganglion cells and their axons, the optic nerve. Idebenone, a synthetic CoQ derivative, is a potent intramitochondrial antioxidant and can shuttle electrons directly to complex III of the respiratory chain, thereby bypassing complex I deficiency. On the basis of several clinical trials, it has been approved as a treatment for LHON in 2015 (in the EU). In addition, direct intravitreal gene replacement therapy is being investigated, with several late-stage clinical trials already completed. In the future, gene editing of mtDNA variants may also become a therapeutic option.
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