Optic Atrophy, Hereditary, Leber
"Optic Atrophy, Hereditary, Leber" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Descriptor ID |
D029242
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MeSH Number(s) |
C10.292.700.225.500.400 C10.574.500.662.400 C11.270.564.400 C11.640.451.451.400 C16.320.290.564.400 C16.320.400.630.400 C18.452.660.670
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Concept/Terms |
Optic Atrophy, Hereditary, Leber- Optic Atrophy, Hereditary, Leber
- Leber Hereditary Optic Atrophy
- Leber Hereditary Optic Neuropathy
- Leber Optic Atrophy
- Optic Atrophy, Leber
- Leber Optic Atrophy and Dystonia
- Leber's Disease
- Disease, Leber's
- Diseases, Leber's
- Leber Disease
- Leber's Diseases
- Lebers Disease
- Leber's Hereditary Optic Neuropathy
- Leber's Optic Atrophy
- Leber's Optic Neuropathy
- Leber Optic Neuropathy
- Lebers Optic Neuropathy
- Neuropathy, Leber's Optic
- Optic Neuropathy, Leber's
- Optic Atrophy, Leber Type
- Optic Atrophy, Leber, Hereditary
- Hereditary Optic Neuroretinopathy
- Hereditary Optic Neuroretinopathies
- Neuroretinopathies, Hereditary Optic
- Neuroretinopathy, Hereditary Optic
- Optic Neuroretinopathies, Hereditary
- Optic Neuroretinopathy, Hereditary
- Leber's Hereditary Optic Atrophy
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Below are MeSH descriptors whose meaning is more general than "Optic Atrophy, Hereditary, Leber".
- Diseases [C]
- Nervous System Diseases [C10]
- Cranial Nerve Diseases [C10.292]
- Optic Nerve Diseases [C10.292.700]
- Optic Atrophy [C10.292.700.225]
- Optic Atrophies, Hereditary [C10.292.700.225.500]
- Optic Atrophy, Hereditary, Leber [C10.292.700.225.500.400]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Optic Atrophies, Hereditary [C10.574.500.662]
- Optic Atrophy, Hereditary, Leber [C10.574.500.662.400]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Optic Atrophies, Hereditary [C11.270.564]
- Optic Atrophy, Hereditary, Leber [C11.270.564.400]
- Optic Nerve Diseases [C11.640]
- Optic Atrophy [C11.640.451]
- Optic Atrophies, Hereditary [C11.640.451.451]
- Optic Atrophy, Hereditary, Leber [C11.640.451.451.400]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Optic Atrophies, Hereditary [C16.320.290.564]
- Optic Atrophy, Hereditary, Leber [C16.320.290.564.400]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Optic Atrophies, Hereditary [C16.320.400.630]
- Optic Atrophy, Hereditary, Leber [C16.320.400.630.400]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Mitochondrial Diseases [C18.452.660]
- Optic Atrophy, Hereditary, Leber [C18.452.660.670]
Below are MeSH descriptors whose meaning is more specific than "Optic Atrophy, Hereditary, Leber".
This graph shows the total number of publications written about "Optic Atrophy, Hereditary, Leber" by people in this website by year, and whether "Optic Atrophy, Hereditary, Leber" was a major or minor topic of these publications.
To see the data from this visualization as text,
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Year | Major Topic | Minor Topic | Total |
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2017 | 4 | 0 | 4 |
2018 | 4 | 0 | 4 |
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Below are the most recent publications written about "Optic Atrophy, Hereditary, Leber" by people in Profiles.
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Leber's Hereditary Optic Neuropathy in Older Individuals Because of Increased Alcohol Consumption During the COVID-19 Pandemic. J Neuroophthalmol. 2021 09 01; 41(3):316-320.
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Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye. BMC Neurol. 2018 Dec 27; 18(1):220.
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Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker. Clin Exp Ophthalmol. 2018 12; 46(9):1055-1062.
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Bioactivity and gene expression profiles of hiPSC-generated retinal ganglion cells in MT-ND4 mutated Leber's hereditary optic neuropathy. Exp Cell Res. 2018 02 15; 363(2):299-309.
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Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy. Stem Cell Res. 2018 04; 28:56-60.
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Author reply: "MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy". J Neurol Sci. 2017 11 15; 382:166-167.
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Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study. Invest Ophthalmol Vis Sci. 2017 09 01; 58(11):4586-4592.
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MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy. J Neurol Sci. 2017 09 15; 380:174-176.
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Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing. J Neurol Sci. 2017 04 15; 375:301-303.