A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

No abstract is available for this paper.

• Publication year

  1992

• Venue

  American Journal of Human Genetics

• Publication date

  1992-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 1463007PMCID PMC1682921
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Leber hereditary optic neuropathy in Australia.

  1992cited by this paper
• The sequence of human mtDNA: the question of errors versus polymorphisms.

  1992cited by this paper
• Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.

  1992cited by this paper
• Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains.

  1992cited by this paper
• A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.

  1992cited by this paper
• Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

  1991cited by this paper
• A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

  1991cited by this paper
• Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease.

  1991cited by this paper
• Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

  1991cited by this paper
• Cytochrome b mutations in Leber hereditary optic neuropathy.

  1991cited by this paper
• A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

  1991cited by this paper
• Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

  1991cited by this paper
• An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

  1990cited by this paper
• Evolutionary conservation of protein regions in the protonmotive cytochromeb and their possible roles in redox catalysis

  1989cited by this paper
• Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

  1989cited by this paper
• Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

  1988cited by this paper
• Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies.

  1984cited by this paper
• Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members.

  1983cited by this paper
• Bilateral optic neuropathy with remission in young men. Variation on a theme by Leber?

  1983cited by this paper
• Sequence and organization of the human mitochondrial genome

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• Hereditary optic atrophy.

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• Ocular fundus in acute Leber optic neuropathy.

  1973cited by this paper
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  1970cited by this paper
• A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance.

  1970cited by this paper
• Hereditary optic atrophy (Leber's disease).

  1969cited by this paper
• THE SIGNIFICANCE OF HEREDITY IN OPHTHALMOLOGY. PRELIMINARY SURVEY OF HEREDITARY EYE DISEASES IN TASMANIA *

  1938cited by this paper

• Family and genetic counseling in Leber hereditary optic neuropathy

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• Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy

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• Comparison of thickness changes in retinal nerve fibre layer in Leber’s hereditary optic neuropathy patients with 11778, 14484 and 3460 mutations

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• Mitochondrial retinopathies and optic neuropathies: the impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management.

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• A systematic review on the biochemical threshold of mitochondrial genetic variants

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• A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory Complex I

  2023cites this paper
• [Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy].

  2023cites this paper
• Mitochondrial optic neuropathies.

  2023cites this paper
• Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy

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• The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature

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• Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights.

  2022cites this paper
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  2022cites this paper
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  2022cites this paper
• Candidate Modifier Genes for the Penetrance of Leber’s Hereditary Optic Neuropathy

  2022cites this paper
• Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms

  2022cites this paper
• Leber’s Hereditary Optic Neuropathy: the roles of mitochondrial transfer RNA variants

  2021cites this paper
• Establishing risk of vision loss in Leber hereditary optic neuropathy

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• Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

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• Compressive Optic Neuropathy with a Concurrent Mutation of Leber’s Hereditary Optic Neuropathy: A Case Report

  2020cites this paper
• Decreased Volume of Lateral and Medial Geniculate Nuclei in Patients with LHON Disease—7 Tesla MRI Study

  2020cites this paper
• Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy.

  2020cites this paper
• Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy

  2020cites this paper
• Neuroanatomical Changes in Leber’s Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry

  2020cites this paper
• Mitochondrial DNA Variation of Leber’s Hereditary Optic Neuropathy in Western Siberia

  2019cites this paper
• Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss

  2019cites this paper
• Analysis of Inherited Optic Neuropathies

  2019cites this paper
• Brain white matter changes in asymptomatic carriers of Leber’s hereditary optic neuropathy

  2019cites this paper
• Mitochondrial Optic Neuropathies

  2019cites this paper
• Mitochondrial DNA variation of Leber’s Hereditary Optic Neuropathy (LHON) in Western Siberia

  2019influential citation
• The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis.

  2019cites this paper
• Leber’s Hereditary Optic Neuropathy

  2018cites this paper
• Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue: A Preliminary Study

  2018influential citation
• The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

  2018cites this paper
• The Progress of Gene Therapy for Leber's Optic Hereditary Neuropathy

  2018cites this paper
• Altered mitochondrial dynamics in a novel cellular model of Leber Hereditary Optic Neuropathy (LHON)

  2018cites this paper
• Living with leber hereditary optic neuropathy: Exploring experiences and perceptions of a disruptive mitochondrial condition

  2018cites this paper
• Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

  2018cites this paper
• Childhood-onset Leber hereditary optic neuropathy

  2017cites this paper
• Treatment of Leber's Hereditary Optic Neuropathy.

  2017cites this paper
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  2017cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2015cites this paper
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  2013cites this paper
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  2013cites this paper
• Leber Hereditary Optic Neuropathy

  2013cites this paper
• Results of Mitochondrial DNA Sequence Analysis in Patients with Clinically Diagnosed Leber's Hereditary Optic Neuropathy.

  2012cites this paper
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• SDH assembly in S. cerevisiae: focus on the functional role of SDH6

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• Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

  2012cites this paper
• Cellular Consequences of mtDNA-Encoded Mutations in NADH:Ubiquinone Oxidoreductase

  2012cites this paper
• Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study

  2012cites this paper
• Disease mechanisms in mitochondrial maintenance disorders

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• Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review

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• Extra-Visual Functional and Structural Connection Abnormalities in Leber's Hereditary Optic Neuropathy

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• Reduced frequency of known mutations in a cohort of LHON patients from India

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• Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

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• Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T>C

  2010cites this paper
• Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy

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• Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies

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• Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

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• GIANT RESERVOIR CYST FOLLOWING MOLTENO IMPLANT IN STURGE-WEBER SYNDROME

  2009cites this paper
• Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.

  2009cites this paper
• Diagnosis of Leber’s hereditary optic neuropathy (LHON) : analysis of MT-ND1, MT-ND4 and MT-ND6 in patients with LHON

  2009cites this paper
• Hereditary, Nutritional, and Toxic Optic Atrophies

  2009cites this paper
• Inherited mitochondrial optic neuropathies

  2008cites this paper
• Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme.

  2008cites this paper
• The Genetics of Leber Hereditary Optic Neuropathy—Prototype of an Inherited Optic Neuropathy with Mitochondrial Dysfunction

  2008cites this paper
• A Mitochondrial Etiology of Neurodegenerative Diseases: Evidence from Parkinson's Disease

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  2008cites this paper
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