Optic Atrophies, Hereditary
"Optic Atrophies, Hereditary" 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.
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
| Descriptor ID |
D015418
|
| MeSH Number(s) |
C10.292.700.225.500 C10.574.500.662 C11.270.564 C11.640.451.451 C16.320.290.564 C16.320.400.630
|
| Concept/Terms |
Optic Atrophies, Hereditary- Optic Atrophies, Hereditary
- Optic Atrophy, Hereditary
- Hereditary Optic Atrophy
- Atrophies, Hereditary Optic
- Atrophy, Hereditary Optic
- Hereditary Optic Atrophies
|
Below are MeSH descriptors whose meaning is more general than "Optic Atrophies, Hereditary".
- 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]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Optic Atrophies, Hereditary [C10.574.500.662]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Optic Atrophies, Hereditary [C11.270.564]
- Optic Nerve Diseases [C11.640]
- Optic Atrophy [C11.640.451]
- Optic Atrophies, Hereditary [C11.640.451.451]
- 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]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Optic Atrophies, Hereditary [C16.320.400.630]
Below are MeSH descriptors whose meaning is more specific than "Optic Atrophies, Hereditary".
This graph shows the total number of publications written about "Optic Atrophies, Hereditary" by people in this website by year, and whether "Optic Atrophies, Hereditary" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
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Below are the most recent publications written about "Optic Atrophies, Hereditary" by people in Profiles.
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Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Cells. 2022 04 08; 11(8).
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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 06; 182(6):1426-1437.
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Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. 2020 03 27; 29(5):705-715.
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Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-L?ken syndrome? Vet Pathol. 2015 May; 52(3):580-95.
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
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Novel POLG splice site mutation and optic atrophy. Arch Neurol. 2011 Jun; 68(6):806-11.
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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001; 17(1):42-51.
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A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet. 1998 Sep; 103(3):328-33.
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Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim Biophys Acta. 1995 May 24; 1271(1):141-51.