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).
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 Harvard Catalyst Profiles by year, and whether "Optic Atrophies, Hereditary" 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 |
|---|
| 1994 | 1 | 0 | 1 |
| 1995 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 1997 | 2 | 0 | 2 |
| 1998 | 1 | 0 | 1 |
| 1999 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 2 | 0 | 2 |
| 2011 | 0 | 1 | 1 |
| 2014 | 0 | 1 | 1 |
| 2015 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 0 | 1 | 1 |
| 2022 | 0 | 1 | 1 |
Below are the most recent publications written about "Optic Atrophies, Hereditary" by people in Profiles.
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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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Dental Management of Siblings with GAPO Syndrome. J Dent Child (Chic). 2021 May 15; 88(2):134-139.
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Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome. Mol Genet Genomic Med. 2021 01; 9(1):e1566.
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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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Telogen hair loss and androgenetic-like alopecia in GAPO syndrome. Australas J Dermatol. 2019 May; 60(2):e142-e144.
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Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis. Matrix Biol. 2015 Mar; 42:56-73.
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The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes. Pediatr Diabetes. 2015 Feb; 16(1):1-9.
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Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011 Jan; 129(1):81-7.
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Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy. Mol Vis. 2006 May 12; 12:485-91.
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Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001 May; 68(5):1295-8.