ReviewJournal of medical genetics2009
Inherited mitochondrial optic neuropathies.
Review in Journal of medical genetics, 2009. 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 210 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
210 citing papers in PubMed, 4 syntheses or guidelines pooled it, 421 citations in OpenAlex.
- Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.Indian journal of ophthalmology · 2026Pooled it
- The Role of Estrogen in Mitochondrial Disease.Cellular and molecular neurobiology · 2025Pooled it
- Pooled it
- Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development.Advances in therapy · 2019Pooled it
- Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2020Trial
- Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2013Trial
- Functional and structural analysis in relation to age at onset of Leber hereditary optic neuropathy: a Swedish cohort.Eye (London, England) · 2026Article
- The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- The Eye as a Window to Neurodegeneration: Oxidative Stress, Optic Nerve Vulnerability, and Retinal Biomarkers-A Scoping Review.Antioxidants (Basel, Switzerland) · 2026Review
- Progressive Retinal and Neurologic Findings in a Family With Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.Journal of vitreoretinal diseases · 2026Article
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration.Genome medicine · 2026Article
- From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks.Biomedicines · 2026Review
- Pharmacological Depletion of Retinal Mononuclear Phagocytes Is Neuroprotective in a Mouse Model of Mitochondrial Optic Neuropathy.Investigative ophthalmology & visual science · 2026Article
- Article
- Imaging patterns of paediatric CNS mitochondrial disorders.Neuroradiology · 2026Review
- Efficacy and safety of intravitreal rAAV2-ND4 therapy for Leber's hereditary optic neuropathy.Eye (London, England) · 2025Article
- Differentiating Leber's Hereditary Optic Neuropathy from Optic Neuritis in a Clinical Setting.Annals of Indian Academy of Neurology · 2025Article
- Development of Two In Vitro ND1-LHON Models for Evaluating Gene Therapy Efficacy.Investigative ophthalmology & visual science · 2025Article
- Acute Bilateral Vision Loss in a Young Male: A Case of Leber's Hereditary Optic Neuropathy.Cureus · 2025Article
150 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in significant visual morbidity among young adults. Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families have mutations in the OPA1 gene, which codes for an inner mitochondrial membrane protein critical for mtDNA maintenance and oxidative phosphorylation. Additional genetic and environmental factors modulate the penetrance of LHON, and the same is likely to be the case for DOA which has a markedly variable clinical phenotype. The selective vulnerability of retinal ganglion cells (RGCs) is a key pathological feature and understanding the fundamental mechanisms that underlie RGC loss in these disorders is a prerequisite for the development of effective therapeutic strategies which are currently limited.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.