ReviewFrontiers in neurology2014
Medical management of hereditary optic neuropathies.
Review in Frontiers in neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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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
28 citing papers in PubMed, 61 citations in OpenAlex.
- Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.Orphanet journal of rare diseases · 2018Trial
- Alterations in ganglion cell and nerve fiber layer in Leber hereditary optic neuropathy across clinical stages.BMC ophthalmology · 2025Article
- Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.Cells · 2023Review
- Idebenone Treatment in Patients with OPA1-Dominant Optic Atrophy: A Prospective Phase 2 Trial.Neuro-ophthalmology (Aeolus Press) · 2023Article
- Case report: Mutations inFrontiers in neurology · 2023Article
- Article
- Relative Leukocyte Telomere Length and Telomerase Complex Regulatory Markers Association with Leber's Hereditary Optic Neuropathy.Medicina (Kaunas, Lithuania) · 2022Article
- Optic neuropathy induced by ethambutol: A rare case from Nepal.Annals of medicine and surgery (2012) · 2022Article
- The Natural History of Leber's Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers.Neuro-ophthalmology (Aeolus Press) · 2022Article
- A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.Human molecular genetics · 2021Article
- Review
- Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.Advances in therapy · 2021Observational
- Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.Frontiers in neurology · 2021Article
- Case Report: A Novel Mutation in the MitochondrialFrontiers in neurology · 2021Article
- Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.Frontiers in neurology · 2021Article
- Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Dominant Optic Atrophy.Stem cell investigation · 2019Article
- Apoptosis inducing factor deficiency causes retinal photoreceptor degeneration. The protective role of the redox compound methylene blue.Redox biology · 2019Article
- The Mitochondrial Permeability Transition in Mitochondrial Disorders.Oxidative medicine and cellular longevity · 2019Review
- Current and Emerging Treatment Modalities for Leber's Hereditary Optic Neuropathy: A Review of the Literature.Advances in therapy · 2018Review
- Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Indian journal of ophthalmology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.
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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.