Optic Atrophy, Autosomal Dominant
"Optic Atrophy, Autosomal Dominant" 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.
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
MeSH Number(s)
C10.292.700.225.500.100
C10.574.500.662.100
C11.270.564.100
C11.640.451.451.100
C16.320.290.564.100
C16.320.400.630.100
C18.452.660.665
Concept/Terms
Optic Atrophy, Autosomal Dominant- Optic Atrophy, Autosomal Dominant
- Optic Atrophy, Hereditary, Autosomal Dominant
- Optic Atrophy Type 1
- Optic Atrophy, Kjer Type
- Dominant Optic Atrophy
- Dominant Optic Atrophies
- Optic Atrophies, Dominant
- Optic Atrophy, Dominant
- Autosomal Dominant Optic Atrophy
Below are MeSH descriptors whose meaning is more general than "Optic Atrophy, Autosomal Dominant".
- 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, Autosomal Dominant [C10.292.700.225.500.100]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Optic Atrophies, Hereditary [C10.574.500.662]
- Optic Atrophy, Autosomal Dominant [C10.574.500.662.100]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Optic Atrophies, Hereditary [C11.270.564]
- Optic Atrophy, Autosomal Dominant [C11.270.564.100]
- Optic Nerve Diseases [C11.640]
- Optic Atrophy [C11.640.451]
- Optic Atrophies, Hereditary [C11.640.451.451]
- Optic Atrophy, Autosomal Dominant [C11.640.451.451.100]
- 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, Autosomal Dominant [C16.320.290.564.100]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Optic Atrophies, Hereditary [C16.320.400.630]
- Optic Atrophy, Autosomal Dominant [C16.320.400.630.100]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Mitochondrial Diseases [C18.452.660]
- Optic Atrophy, Autosomal Dominant [C18.452.660.665]
Below are MeSH descriptors whose meaning is more specific than "Optic Atrophy, Autosomal Dominant".
This graph shows the total number of publications written about "Optic Atrophy, Autosomal Dominant" by people in Harvard Catalyst Profiles by year, and whether "Optic Atrophy, Autosomal Dominant" 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 |
|---|
| 2008 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
Below are the most recent publications written about "Optic Atrophy, Autosomal Dominant" by people in Profiles.
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Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy. Ophthalmic Genet. 2020 12; 41(6):563-569.
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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. Orphanet J Rare Dis. 2019 09 10; 14(1):214.
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Mitochondrial Reactive Oxygen Species in Lipotoxic Hearts Induce Post-Translational Modifications of AKAP121, DRP1, and OPA1 That Promote Mitochondrial Fission. Circ Res. 2018 01 05; 122(1):58-73.
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Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches. Semin Pediatr Neurol. 2017 05; 24(2):129-134.
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Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. Curr Opin Ophthalmol. 2016 Nov; 27(6):475-480.
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Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications. Cold Spring Harb Perspect Med. 2015 Jul 01; 5(7):a017277.
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Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):422-6.
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OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy. Neurology. 2012 Oct 02; 79(14):1515-7.
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The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology. 2010 Aug; 117(8):1538-46, 1546.e1.
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OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain. 2008 Feb; 131(Pt 2):352-67.