A Neuropatia Óptica Hereditária de Leber (LHON) é uma doença que afeta os nervos e piora com o tempo (neurodegenerativa), tendo origem nas mitocôndrias (as "usinas de energia" das nossas células). Ela atinge o nervo óptico (o "cabo" que leva a informação visual do olho para o cérebro) e, com frequência, provoca uma perda repentina da visão em jovens adultos que carregam essa condição.
Introdução
O que você precisa saber de cara
A Neuropatia Óptica Hereditária de Leber (LHON) é uma doença que afeta os nervos e piora com o tempo (neurodegenerativa), tendo origem nas mitocôndrias (as "usinas de energia" das nossas células). Ela atinge o nervo óptico (o "cabo" que leva a informação visual do olho para o cérebro) e, com frequência, provoca uma perda repentina da visão em jovens adultos que carregam essa condição.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
12 genes identificados com associação a esta condição. Padrão de herança: Mitochondrial inheritance.
Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis
Mitochondrion inner membrane
Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1
Mitochondrion inner membrane
Neuropathy, ataxia, and retinitis pigmentosa
A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over t
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). May be a chaperone protein involved in the turnover of the subunits of mitochondrial complex I N-module. It facilitates the degradation of N-module subunits damaged by oxidative stress, and contributes to complex I functional efficiency (PubMed:33465056)
Mitochondrion inner membrane
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:16996290). Essential for the catalytic activity and assembly of complex I (PubMed:16996290)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14595656, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:14595656, PubMed:8644732)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over t
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22036843, PubMed:28031252, PubMed:30922174). Essential for the catalytic activity of complex I (PubMed:22036843, PubMed:30922174). Essential for the assembly of complex I (By similarity). Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature w
Mitochondrion inner membrane
Mitochondrial complex I deficiency, nuclear type 6
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827, PubMed:8344246, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:15250827, PubMed:8344246, PubMed:8644732)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the enzyme membrane arm which is embedded in the lipid bilayer and involved in proton translocation (PubMed:28844695)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:1959619). Essential for the catalytic activity and assembly of complex I (PubMed:1959619, PubMed:26929434)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Variantes genéticas (ClinVar)
169 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Neuropatia óptica hereditária de Leber
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
6 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
41 ensaios clínicos encontrados, 9 ativos.
Publicações mais relevantes
Pharmacological Depletion of Retinal Mononuclear Phagocytes Is Neuroprotective in a Mouse Model of Mitochondrial Optic Neuropathy.
The Vglut2-Cre;ndufs4loxP/loxP mouse strain with retinal ganglion cell (RGC)-specific mitochondrial complex I dysfunction develops severe RGC degeneration by postnatal day 90 (P90), with accompanying retinal mononuclear phagocyte (MNP) accumulation. We have reported that continuous exposure to hypoxia partially rescues RGC death in these mice, with minimal effect on MNP abundance. We hypothesized that pharmacological depletion of MNPs with the colony-stimulating factor-1 receptor inhibitor pexidartinib would enhance RGC neuroprotection by hypoxia. Iba1+ retinal MNP depletion was assessed in C57Bl/6J mice fed control or pexidartinib-infused chow beginning at P25. Subsequently, Vglut2-Cre;ndufs4loxP/loxP mice and control littermates were raised under normoxia or hypoxia and fed control or pexidartinib chow from P25 to P90. The neuroprotective effect of pexidartinib and hypoxia alone and in combination was assessed by quantifying RGC soma and axon survival in retinal flat mounts and optic nerve cross-sections. Pexidartinib completely depleted retinal MNPs within 1 week of treatment. Untreated Vglut2-Cre;ndufs4loxP/loxP mice exhibited the expected approximately 50% reduction of RGC soma and axon survival at P90 (P < 0.0001 for both). Hypoxia or pexidartinib monotherapy each reduced RGC degeneration by more than one-half, whereas their combination resulted in complete RGC neuroprotection (P < 0.01 for all 3 treatments). Normal myelination patterns were restored in mice receiving dual therapy. Pexidartinib effectively depletes retinal MNPs and is neuroprotective in the setting of severe RGC mitochondrial dysfunction. This therapeutic effect is additive to that of hypoxia. Combating retinal neuro-inflammation may therefore be a useful adjunct therapy in mitochondrial optic neuropathies like Leber hereditary optic neuropathy (LHON).
Atypical clinical and MRI features in Leber hereditary optic neuropathy: a case series of four patients.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder typically presenting with subacute, painless, bilateral vision loss in young individuals. While often recognizable, atypical presentations can complicate diagnosis. Notably, optic nerve lesions on MRI are uncommon in LHON and are typically associated with inflammatory optic neuropathies, increasing the risk of misdiagnosis. We retrospectively analyzed four patients who initially presented with suspected optic neuritis but were later diagnosed with LHON. Demographic, genetic, clinical, and multimodal data were retrieved from medical records. The series included two adolescent males, a 51-year-old man, and a 52-year-old woman. All experienced subacute, bilateral vision loss and were later found to carry pathogenic LHON mutations. However, their initial presentations were misleading. The two adult patients presented beyond the typical age of onset; one was initially diagnosed with glaucoma due to increased intraocular pressure, while the other had a history of Fahr's syndrome. One adolescent reported ocular pain with eye movements and showed a relative afferent pupillary defect, mimicking optic neuritis. Two patients lacked typical fundoscopic findings suggestive of LHON. MRI findings further complicated the diagnosis: all patients showed T2-FLAIR hyperintensities of the optic nerves with contrast enhancement, and in three cases abnormalities extended posteriorly to the chiasm and optic tracts on follow-up MRI. MRI abnormalities involving the optic pathway do not exclude LHON and may be present in atypical cases. LHON should be considered in all patients presenting with bilateral subacute visual loss, even when clinical or imaging features suggest alternative diagnoses.
Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
Primary mitochondrial disorders are clinically and genetically heterogeneous and remain underdiagnosed in resource-limited settings. We performed a retrospective observational study (March 2016-January 2024) at a tertiary neurology center in Eastern India to characterize the clinical, biochemical, neuroimaging, electrophysiological, and molecular features of suspected mitochondrial disease and to explore interpretable machine-learning approaches for syndromic stratification. Forty-eight patients from 42 unrelated families were classified as MELAS (n = 17), chronic progressive external ophthalmoplegia (CPEO; n = 14), Leber hereditary optic neuropathy (LHON; n = 10), or Leigh syndrome (n = 7). Mean age at presentation was 23.9 years (range: 9 months-60 years), with a slight male predominance. Neuroimaging was abnormal in 23/48 (47.9%) and showed syndrome-concordant patterns, including stroke-like cortical lesions in MELAS and symmetric basal ganglia involvement in Leigh syndrome; brain MRI was typically normal in CPEO. Elevated blood and/or cerebrospinal fluid lactate was common, and electroencephalographic abnormalities were concentrated in MELAS and Leigh syndrome. Targeted molecular testing in a subset identified pathogenic mtDNA variants consistent with phenotype, including MT-TL1 variants in MELAS, m.11778G>A in MT-ND4 in LHON, and m.8993T>G in MT-ATP6 in Leigh syndrome; no mtDNA deletions were detected in tested CPEO cases. Decision tree and random forest models highlighted clinically intuitive discriminators (e.g., visual loss, external ophthalmoplegia/ptosis, and seizure phenotype), supporting their potential role as transparent triage tools for targeted molecular evaluation. This cohort provides the first detailed characterization of mitochondrial syndromes in Eastern India and supports a pragmatic diagnostic framework integrating bedside phenotyping, targeted assays, and interpretable machine learning.
Five-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation.
To compare 5-year visual acuity trajectories in Leber hereditary optic neuropathy (LHON) by age at onset. A retrospective single-center cohort study. Fifty-seven patients (114 eyes) with genetically confirmed, bilateral-onset LHON. Serial best-corrected visual acuity (BCVA, logMAR) over 5 years was extracted from medical records. The age at onset was grouped as ≤19, 20-49, or ≥50 years. Sex and primary mutation (m.11778G>A vs m.14484T>C) were also assessed. Longitudinal trajectories were analyzed using linear mixed-effects models. Between-group differences were summarized using ΔlogMAR curves, area under the Δ curve (AUCΔ), and model-based probabilities of achieving logMAR ≤1.0. The median age at onset was 30.0 years (range: 8-69): 15 patients (26%) were ≤19 years old, 31 (54%) were 20-49 years old, and 11 (19%) were ≥50 years old. Relative to the 20-49-year reference group, the ≤19-year group had better visual outcomes over 5 years, with a negative AUCΔ and higher probabilities of achieving logMAR ≤1.0 (70.2% vs 13.6% at 60 months). The ≥50-year group showed poorer vision over time, with a positive AUCΔ and low probabilities of recovery. Differences by sex were small. Eyes with m.14484T>C had more favourable Δ trajectories than those with m.11778G>A, although the estimates were imprecise. In this cohort, onset at ≤19 years was associated with earlier and greater visual recovery, whereas onset at ≥50 years was associated with persistently worse vision. Age at onset is an important modifier of 5-year visual prognosis in bilaterally affected LHON.
Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review.
Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial optic neuropathy characterized by acute or subacute painless central visual loss. Most cases are associated with three primary mitochondrial DNA mutations; however, rare variants remain incompletely characterized. Early diagnosis is essential for appropriate management and genetic counseling. We report the case of a 51-year-old Lithuanian woman who presented with painless, progressive central visual loss. Initial neurological and ophthalmological investigations were unremarkable, and corticosteroid therapy was ineffective. Genetic testing revealed a rare homoplasmic m.3394T>C mutation in the MT-ND1 gene. The patient was subsequently treated with idebenone and followed for six years. Following initiation of idebenone therapy, the patient demonstrated gradual and sustained improvement in best-corrected visual acuity, reaching 1.0 in both eyes. Visual fields stabilized, and long-term follow-up showed preserved visual function. Optical coherence tomography revealed persistent but stable structural changes, including retinal nerve fiber layer and ganglion cell layer thinning in the affected eye. This case highlights the potential for favorable long-term visual outcomes in patients with LHON associated with rare mitochondrial variants. It underscores the importance of considering hereditary optic neuropathy in patients with painless visual loss and poor response to corticosteroids. Further studies are needed to clarify genotype-phenotype correlations and treatment responsiveness in rare LHON-associated mutations.
Publicações recentes
Leber Hereditary Optic Neuropathy in the Elderly: A Case Report.
Leber hereditary optic neuropathy triggered by the AstraZeneca coronavirus disease 2019 vaccination.
Impact of individualized colored spectacle filters on photophobia and visual comfort in central visual field defect patients: a one-year study.
Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.
Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
📚 EuropePMC558 artigos no totalmostrando 197
Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyIntegrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
MitochondrionFive-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieLeber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review.
CureusOxidative stress imbalance and cellular damage mediated by the ND4 G11778A mutation.
Scientific reportsDiagnostic and Imaging Features of Leber Hereditary Optic Neuropathy: An Individual Participant Data Meta-Analysis.
AJNR. American journal of neuroradiologyOptic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations.
Journal of genetics and genomics = Yi chuan xue baoMolecular Mechanism of Mitochondrial Complex I Disruption by m.14484T>C Underlying Leber Hereditary Optic Neuropathy.
bioRxiv : the preprint server for biologyPharmacological Depletion of Retinal Mononuclear Phagocytes Is Neuroprotective in a Mouse Model of Mitochondrial Optic Neuropathy.
Investigative ophthalmology & visual scienceLeber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report.
Case reports in ophthalmologyDifference in pupillary response to red and blue color stimuli between glaucoma and Leber hereditary optic neuropathy patients with comparable central visual dysfunction.
Documenta ophthalmologica. Advances in ophthalmologyAtypical clinical and MRI features in Leber hereditary optic neuropathy: a case series of four patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMitochondrial-Immune Overlap in Leber Hereditary Optic Neuropathy: A Case Report and Lessons Learned.
Reports (MDPI)Another One: A Novel Variant Associated With Leber Hereditary Optic Neuropathy.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyOptic Atrophy Predominant WFS1 Disorder-A Case-Control Study.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietySerum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.
Brain communicationsTrans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis.
PLoS geneticsAdvanced therapies for inherited optic neuropathies.
Eye (London, England)Preclinical Assessment of Mitochondrial-Targeted ND4 Gene Therapy for Leber Hereditary Optic Neuropathy.
Investigative ophthalmology & visual scienceIn vivo mitochondrial base editing restores genotype and visual function in a mouse model of LHON.
Nature communications[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesThe Pedigree Study of Leber's Hereditary Optic Neuropathy in Korean Population.
Seminars in ophthalmologyRecessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Brain : a journal of neurologyNavigating Health When Sudden Blindness Occurs: The Experience of Leber Hereditary Optic Neuropathy.
Creative nursingDevelopment of Two In Vitro ND1-LHON Models for Evaluating Gene Therapy Efficacy.
Investigative ophthalmology & visual scienceChromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies.
Documenta ophthalmologica. Advances in ophthalmologyExploring rare mitochondrial DNA in Leber hereditary optic neuropathy.
Advances in ophthalmology practice and researchClinical Features of Leber Hereditary Optic Neuropathy Carrying a Rare m.13051G>A Mitochondrial Mutation: A Case Report.
Korean journal of ophthalmology : KJOClinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.
Journal of multidisciplinary healthcareInfographic: therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: the LEROS nonrandomized controlled trial.
Eye (London, England)Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants.
Frontiers in neurologyRasch analysis of the NEI-VFQ-25: vision-related quality of life in Leber hereditary optic neuropathy after lenadogene nolparvovec gene therapy.
BMJ open ophthalmologyOutcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales.
Eye (London, England)An Additional Case of Leber Hereditary Optic Neuropathy With G9804A Mutation.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyStructural insights into DdCBE in action enable high-precision mitochondrial DNA editing.
Molecular cellMetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers.
Metabolomics : Official journal of the Metabolomic SocietyEvaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.
Life (Basel, Switzerland)Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber's hereditary optic neuropathy patient-derived fibroblasts.
Human molecular geneticsAnterograde degeneration along the visual pathway following optic nerve injury: a review.
Frontiers in neurologyInfographic: Efficacy and safety of intravitreal gene therapy for Leber hereditary optic neuropathy treated within 6 months of disease onset (RESCUE Trial).
Eye (London, England)Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyExtraocular features of Leber hereditary optic neuropathy: A scoping review.
Journal of biological methodsTechnological advances in the diagnosis and management of inherited optic neuropathies.
Frontiers in neurology"Adrift From the World": Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study.
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes ResearchLeber Hereditary Optic Neuropathy and Epilepsy in a Mexican Patient.
CureusUncovering the Characteristics of Pupil Cycle Time (PCT) in Neuropathies and Retinopathies.
Vision (Basel, Switzerland)Large language models in neuro-ophthalmology diseases: ChatGPT vs Bard vs Bing.
International journal of ophthalmologyInfographic: landmark trials in neuro-ophthalmology - results of the REVERSE trial for unilateral gene therapy rAAV2/2-ND4 in leber hereditary optic neuropathy.
Eye (London, England)Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy.
Investigative ophthalmology & visual scienceTherapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis.
Ophthalmic geneticsClinical Characteristics of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Optic Neuritis in Carriers of a Leber Hereditary Optic Neuropathy Variant.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyEarly-Onset Hearing Loss in Leber's Hereditary Optic Neuropathy: A Case Report.
Ear, nose, & throat journalNitric Oxide May Adversely Affect the Metabolism and Viability of Retinal Organoids Derived from Patients with Leber Hereditary Optic Neuropathy.
The American journal of pathologyThe 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 reportsBezafibrate was unsuccessful to treat leber hereditary optic neuropathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie[Mechanism of BNIP3-mediated mitophagy in m.3635G>A related Leber hereditary optic neuropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRecurrent Optic Neuritis as a Misleading Presentation of Leber Hereditary Optic Neuropathy: The Need for High Clinical Suspicion in Young Men.
CureusLeber hereditary optic neuropathy: utilities and carer burden from British and Irish participants.
Orphanet journal of rare diseasesIsolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity.
International journal of molecular sciencesLeber hereditary optic neuropathy with the homoplasmic m.14484 T > C mutation presenting initially with cerebellar ataxia.
Journal of neurologyLeber Hereditary Optic Neuropathy With Magnetic Resonance Imaging Findings Suggestive of Optic Perineuritis and Optic Neuritis: A Diagnostic Challenge.
CureusCentral Vestibular Syndrome in Leber Hereditary Optic Neuropathy "Plus".
NeuropediatricsIncidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
Orphanet journal of rare diseasesAlterations in ganglion cell and nerve fiber layer in Leber hereditary optic neuropathy across clinical stages.
BMC ophthalmologyAdult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature.
Neuro-ophthalmology (Aeolus Press)Communicating Hope and Fact to Families With Leber Hereditary Optic Neuropathy.
Clinical & experimental ophthalmologyEarly Macular Ganglion Cell Loss in Leber Hereditary Optic Neuropathy, an Optical Coherence Tomography Biomarker to Differentiate Optic Neuritis.
Journal of clinical medicine[Evaluation of retinal microvascular characteristics in Leber hereditary optic neuropathy based on optical coherence tomography angiography].
Zhonghua yi xue za zhiLeber hereditary optic neuropathy in a family with two primary pathogenic variants: Report of a pedigree and review of the literature.
Journal francais d'ophtalmologiePeripapillary hyperreflective ovoid mass-like structure (PHOMS) and optic disc drusen in pediatric pseudo-papilledema.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieRemarkable visual improvement in Leber hereditary optic neuropathy.
Japanese journal of ophthalmologyLeber's hereditary optic neuropathy and multiple sclerosis: overlap between mitochondrial disease and neuroinflammation.
Frontiers in neurologyVitamin A treatment restores vision failures arising from Leber's hereditary optic neuropathy-linked mtDNA mutation.
JCI insightThe rAAV2-ND1 gene therapy for Leber hereditary optic neuropathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieLeber Hereditary Optic Neuropathy "Plus" with the m.14487 T>C Mutation as the Causality of Hemidystonia: A Case Report.
Case reports in ophthalmologyFrequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.
Advances in experimental medicine and biologyAn exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy.
Scientific reportsClinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.
Orphanet journal of rare diseasesLeber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.
Clinical & experimental ophthalmologyCentral Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report.
Medicina (Kaunas, Lithuania)Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.
GenesFamily and genetic counseling in Leber hereditary optic neuropathy.
Ophthalmic geneticsIdebenone Protects Photoreceptors Impaired by Oxidative Phosphorylation Disorder in Retinal Detachment.
Investigative ophthalmology & visual scienceInsights on the Genetic and Phenotypic Complexities of Optic Neuropathies.
GenesVisual Functions in Patients With Leber Hereditary Optic Neuropathy.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyRisk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits.
Clinical geneticsReprogramming patient-induced pluripotent stem cell-specific retinal organoids for deciphering epigenetic modifications of RNA methylation.
Journal of the Chinese Medical Association : JCMAClinical trials in Leber hereditary optic neuropathy: outcomes and opportunities.
Current opinion in neurologySingle-Eye Gene Therapy for Leber Hereditary Optic Neuropathy.
JAMA ophthalmologyFive-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
JAMA ophthalmologyOpa1 and MT-Nd6 mutations induce early mitochondrial changes in the retina and prelaminar optic nerve of hereditary optic neuropathy mouse models.
Brain communicationsRespiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.
BMC genomicsChildhood Blindness: A Rare Case of Leber Hereditary Optic Neuropathy in a 16-Year-Old Egyptian Patient.
CureusLeber Hereditary Optic Neuropathy With Significant Visual Recovery: An MT-ND6 Mutation in a Malay Patient.
CureusPhase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Brain : a journal of neurologyLeber hereditary optic neuropathy with disc haemorrhage.
Eye (London, England)Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy.
Survey of ophthalmologyHypoxia-mediated rescue of retinal ganglion cells deficient in mitochondrial complex I is independent of the hypoxia-inducible factor pathway.
Scientific reportsMonoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Brain : a journal of neurologyAn Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant.
American journal of medical genetics. Part AGanglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy.
Investigative ophthalmology & visual scienceRetinal damage promotes mitochondrial transfer in the visual system of a mouse model of Leber hereditary optic neuropathy.
Neurobiology of diseasePrimary mitochondrial diseases.
Handbook of clinical neurologyLeber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective.
Orphanet journal of rare diseasesClinical follow-up investigation on thickness changes in the peripapillary retinal nerve fibre layer of patients with Leber hereditary optic neuropathy.
BMC ophthalmologyA Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding's Disease.
Eye and brainFamily Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyLeber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant.
Case reports in ophthalmologyExtranuclear DNA Variations in the Susceptibility of Glaucoma.
Middle East African journal of ophthalmologyExtensive Optic Tracts Involvement in the Acute Phase of Leber Hereditary Optic Neuropathy.
NeurologyAssessment of objective visual function following idebenone administration in patients with leber hereditary optic neuropathy.
Japanese journal of ophthalmologyLeber hereditary optic neuropathy in Czechia and Slovakia: Quality of life and costs from patient perspective.
HeliyonGene therapy for Leber hereditary optic neuropathy.
Expert opinion on biological therapyOptic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyA computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I.
International journal of biological macromoleculesElectrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology.
Eye (London, England)Maculopapillary Bundle Degeneration in Optic Neuropathies.
Current neurology and neuroscience reportsPrevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method.
Orphanet journal of rare diseasesDeep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome.
CureusNovel Mutations in the ND5 Gene Associated With Leber Hereditary Optic Neuropathy.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyAtypical Late-Onset Leber Hereditary Optic Neuropathy (LHON) Associated With T14484C Mutation.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyAutosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.
European journal of ophthalmologyPreserved Ganglion Cell Analysis in a Case of Longstanding Leber Hereditary Optic Neuropathy: A Sign of Hibernating Neurons?
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyPeripapillary hyperreflective ovoid mass-like structures: multimodal imaging and associated diseases.
Frontiers in neurologyLeber Hereditary Optic Neuropathy Plus Phenotype With Double Point Mutations (m.11778 G>A and m.14484T>C) and Concurrent Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyIdentification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Orphanet journal of rare diseasesLeber Hereditary Optic Neuropathy in 2 Sisters With Friedreich Ataxia.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyAutosomal Recessive Leber Hereditary Optic Neuropathy Triggered by Superior Mesenteric Artery Syndrome.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyGeneration of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Stem cell researchDigenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain : a journal of neurologyPeripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.
BMJ open ophthalmologyElectroretinographic oscillatory potentials in Leber hereditary optic neuropathy.
Documenta ophthalmologica. Advances in ophthalmologyDevelopment of a deep learning model to distinguish the cause of optic disc atrophy using retinal fundus photography.
Scientific reportsTherapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Cell reports. MedicineClinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes.
Seminars in ophthalmologyInherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.
GenesRecurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyVariant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre.
The British journal of ophthalmologyDysregulation of the circRNA_0087207/miR-548c-3p/PLSR1-TGFB2 axis in Leber hereditary optic neuropathy in vitro.
Journal of the Chinese Medical Association : JCMAGenetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Cell reports. MedicineHereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells.
Bioengineering (Basel, Switzerland)Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy.
The British journal of ophthalmology[Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy].
Vestnik oftalmologiiThe Potential and Application of iPSCs in Gene and Cell Therapy for Retinopathies and Optic Neuropathies.
Acta naturaeInjectable, Antioxidative, and Tissue-Adhesive Nanocomposite Hydrogel as a Potential Treatment for Inner Retina Injuries.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Gene therapy for mitochondrial disorders.
Journal of inherited metabolic diseaseDNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
International journal of molecular sciencesLeber hereditary optic neuropathy gene therapy.
Current opinion in ophthalmologyCase report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Frontiers in neurologyCorrelation between Residual Sensitivity in the Central Inferior Nasal Visual Field and Visual Function in Chronic Leber Hereditary Optic Neuropathy Patients.
Ophthalmic researchChoriocapillaris and choroidal thickness in all Leber hereditary optic neuropathy stages using swept source technology.
Acta ophthalmologicaSafety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.
Translational vision science & technologyCOVID-19 Disease: A Trigger for Leber Hereditary Optic Neuropathy (LHON).
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyAutosomal Recessive Leber Hereditary Optic Neuropathy in a Patient With a Novel NDUFAF2 Compound Heterozygous Mutation.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyElamipretide Topical Ophthalmic Solution for the Treatment of Subjects with Leber Hereditary Optic Neuropathy: A Randomized Trial.
OphthalmologyLeber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia.
Journal of clinical medicinePearls & Oy-sters: Leber Hereditary Optic Neuropathy-Plus Masquerading as Neuromyelitis Optica Spectrum Disorder in a 2-Year-Old Child.
NeurologyLeber Hereditary Optic Neuropathy Triggered by Idiopathic Intracranial Hypertension.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyLeber hereditary optic neuropathy presenting as bilateral visual loss and white matter disease.
BioinformationGene augmentation in FAM161A ciliopathy: Toward functional vision rescue.
Molecular therapy : the journal of the American Society of Gene TherapyLeber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures.
American journal of ophthalmologyPyrroloquinoline quinone drives ATP synthesis in vitro and in vivo and provides retinal ganglion cell neuroprotection.
Acta neuropathologica communicationsDiagnostic Yield of Investigations in Symmetric Optic Neuropathy.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyCurrent and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.
CellsClinical Profile of Patients with Leber Hereditary Optic Neuropathy-An Ambispective Study in Cohort from Northern Part of India.
Annals of Indian Academy of NeurologyRapid and Sensitive Diagnosis of Leber Hereditary Optic Neuropathy Variants Using CRISPR/Cas12a Detection.
The Journal of molecular diagnostics : JMDBench to Bedside: Rapid Leber Hereditary Optic Neuropathy Diagnosis.
The Journal of molecular diagnostics : JMDMitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyNon-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset.
GenesPhotoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation.
International journal of ophthalmologyCase report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Frontiers in geneticsVascular Changes in the Macula of Patients after Previous Episodes of Vision Loss Due to Leber Hereditary Optic Neuropathy and Non-Arteritic Ischemic Optic Neuropathy.
Diagnostics (Basel, Switzerland)Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
European journal of neurologyPhNR and peripapillary RNFL changes in Leber hereditary optic neuropathy with m.G11778A mutation.
MitochondrionIschemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
BMC neurologyAutosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Brain : a journal of neurologyComparison of different gene-therapy methods to treat Leber hereditary optic neuropathy in a mouse model.
Frontiers in neurosciencePhenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
European journal of neurologyOcular stress enhances contralateral transfer of lenadogene nolparvovec gene therapy through astrocyte networks.
Molecular therapy : the journal of the American Society of Gene TherapyGenetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Ageing research reviewsLeber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyCardiac conduction abnormalities in Leber Hereditary Optic Neuropathy and asymptomatic maternal relatives.
Eye (London, England)Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction.
PharmaceuticsMitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).
PloS oneAdeno-associated virus mediated gene therapy for neuroprotection of retinal ganglion cells in glaucoma.
Vision researchChoroidal vascularity index in hereditary optic neuropathies.
Eye (London, England)The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature.
Journal of medical case reportsLeber Hereditary Optic Neuropathy Conversion in a Patient With Idiopathic Intracranial Hypertension.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyLeber Hereditary Optic Neuropathy 3 Weeks After COVID-19 Vaccination.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyChanges in visual acuity using low vision devices in patients with Leber hereditary optic neuropathy: A retrospective study.
Indian journal of ophthalmologyCase Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy.
Frontiers in neurologyOptic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.
International journal of molecular sciencesPsychometric Validity of the Visual Function Index in Leber Hereditary Optic Neuropathy.
Translational vision science & technologyLeber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases.
Journal of child neurologyClinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts.
Annals of Indian Academy of NeurologyCognitive Impairment in Phenotypic Leber Hereditary Optic Neuropathy Caused by Mutation in Nuclear Gene NDUFAF5.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyIs the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Pharmacological Depletion of Retinal Mononuclear Phagocytes Is Neuroprotective in a Mouse Model of Mitochondrial Optic Neuropathy.
- Atypical clinical and MRI features in Leber hereditary optic neuropathy: a case series of four patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2026· PMID 41483035mais citado
- Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
- Five-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation.
- Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review.
- Leber Hereditary Optic Neuropathy in the Elderly: A Case Report.
- Leber hereditary optic neuropathy triggered by the AstraZeneca coronavirus disease 2019 vaccination.
- Impact of individualized colored spectacle filters on photophobia and visual comfort in central visual field defect patients: a one-year study.
- Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:104(Orphanet)
- OMIM OMIM:535000(OMIM)
- MONDO:0010788(MONDO)
- GARD:6870(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1262161(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
