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))
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
Concept/Terms
Optic Atrophy, Hereditary, Leber- Optic Atrophy, Hereditary, Leber
- Optic Atrophy, Leber Type
- Leber Hereditary Optic Atrophy
- Leber Hereditary Optic Neuropathy
- Optic Atrophy, Leber, Hereditary
- Leber Optic Atrophy and Dystonia
- Leber's Hereditary Optic Atrophy
- Leber's Hereditary Optic Neuropathy
- Leber's Optic Atrophy
- Lebers Optic Atrophy
- Optic Atrophy, Leber's
- Leber's Disease
- Disease, Leber's
- Diseases, Leber's
- Leber Disease
- Leber's Diseases
- Lebers Disease
- Leber Optic Atrophy
- Optic Atrophy, Leber
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 Harvard Catalyst Profiles by year, and whether "Optic Atrophy, Hereditary, Leber" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 3 | 0 | 3 |
| 2002 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 2 | 0 | 2 |
| 2005 | 1 | 0 | 1 |
| 2007 | 1 | 1 | 2 |
| 2008 | 3 | 1 | 4 |
| 2009 | 2 | 0 | 2 |
| 2010 | 1 | 0 | 1 |
| 2013 | 1 | 1 | 2 |
| 2015 | 1 | 0 | 1 |
| 2016 | 2 | 0 | 2 |
| 2017 | 2 | 0 | 2 |
| 2019 | 3 | 0 | 3 |
| 2021 | 3 | 0 | 3 |
| 2022 | 3 | 0 | 3 |
| 2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Optic Atrophy, Hereditary, Leber" by people in Profiles.
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Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy. Brain. 2023 04 19; 146(4):1328-1341.
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Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic Neuropathy. Am J Ophthalmol. 2023 05; 249:108-125.
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Leber Hereditary Optic Neuropathy Conversion in a Patient With Idiopathic Intracranial Hypertension. J Neuroophthalmol. 2023 Dec 01; 43(4):e139-e141.
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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022 06 03; 145(5):1624-1631.
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Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man. J Neuroophthalmol. 2021 Dec 01; 41(4):e715-e717.
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Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study. Eye (Lond). 2022 04; 36(4):818-826.
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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 03 15; 131(6).
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DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 03 15; 131(6).
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Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells. Sci Rep. 2020 10 05; 10(1):16515.
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Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss. Semin Neurol. 2019 12; 39(6):732-738.