ReviewSurvey of ophthalmology
The neuro-ophthalmology of mitochondrial disease.
Review in Survey of ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 2 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
113 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.BioMed research international · 2023Pooled 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
- Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.Orphanet journal of rare diseases · 2018Trial
- 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
- Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class.Investigative ophthalmology & visual science · 2026Article
- Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.Acta neurologica Belgica · 2026Article
- Development of Two In Vitro ND1-LHON Models for Evaluating Gene Therapy Efficacy.Investigative ophthalmology & visual science · 2025Article
- Case of autosomal dominant optic atrophy with relatively good visual function.BMC ophthalmology · 2025Article
- Distinct developmental outcomes in DNA repair-deficient FANCC c.67delG mutant and FANCCCell death and differentiation · 2025Article
- Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.Investigative ophthalmology & visual science · 2025Article
- The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants.American journal of ophthalmology case reports · 2025Article
- Multiple sclerosis severity variant iniScience · 2025Article
- Leber's Hereditary Optic Neuropathy.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Article
- Central Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report.Medicina (Kaunas, Lithuania) · 2024Article
- Hypoxia-mediated rescue of retinal ganglion cells deficient in mitochondrial complex I is independent of the hypoxia-inducible factor pathway.Scientific reports · 2024Article
- Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.BMJ open ophthalmology · 2024Article
- Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells.Bioengineering (Basel, Switzerland) · 2024Review
- Characterisation of a LINE-1 Insertion in theHuman mutation · 2024Article
53 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Mitochondrial diseases frequently manifest neuro-ophthalmologic symptoms and signs. Because of the predilection of mitochondrial disorders to involve the optic nerves, extraocular muscles, retina, and even the retrochiasmal visual pathways, the ophthalmologist is often the first physician to be consulted. Disorders caused by mitochondrial dysfunction can result from abnormalities in either the mitochondrial DNA or in nuclear genes which encode mitochondrial proteins. Inheritance of these mutations will follow patterns specific to their somatic or mitochondrial genetics. Genotype-phenotype correlations are inconstant, and considerable overlap may occur among these syndromes. The diagnostic approach to the patient with suspected mitochondrial disease entails a detailed personal and family history, careful ophthalmic, neurologic, and systemic examination, directed investigations, and attention to potentially life-threatening sequelae. Although curative treatments for mitochondrial disorders are currently lacking, exciting research advances are being made, particularly in the area of gene therapy. Leber hereditary optic neuropathy, with its window of opportunity for timely intervention and its accessibility to directed therapy, offers a unique model to study future therapeutic interventions. Most patients and their relatives benefit from informed genetic counseling.
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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.