Leber Congenital Amaurosis
"Leber Congenital Amaurosis" 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 rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
| Descriptor ID |
D057130
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| MeSH Number(s) |
C11.270.516 C11.768.364
|
| Concept/Terms |
Leber Congenital Amaurosis- Leber Congenital Amaurosis
- Amauroses, Leber Congenital
- Congenital Amauroses, Leber
- Congenital Amaurosis, Leber
- Leber Congenital Amauroses
- Leber's Amaurosis
- Amauroses, Leber's
- Amaurosis, Leber's
- Leber Amaurosis
- Leber's Amauroses
- Lebers Amaurosis
- Leber Abiotrophy
- Abiotrophies, Leber
- Abiotrophy, Leber
- Leber Abiotrophies
- Leber Congenital Tapetoretinal Degeneration
- Amaurosis, Leber Congenital
- Congenital Retinal Blindness
- Blindness, Congenital Retinal
- Blindnesses, Congenital Retinal
- Congenital Retinal Blindnesses
- Retinal Blindnesses, Congenital
Congenital Amaurosis of Retinal Origin- Congenital Amaurosis of Retinal Origin
- Heredoretinopathia Congenitalis
- Hereditary Retinal Aplasia
- Dysgenesis Neuroepithelialis Retinae
- Hereditary Epithelial Dysplasia of Retina
|
Below are MeSH descriptors whose meaning is more general than "Leber Congenital Amaurosis".
Below are MeSH descriptors whose meaning is more specific than "Leber Congenital Amaurosis".
This graph shows the total number of publications written about "Leber Congenital Amaurosis" by people in this website by year, and whether "Leber Congenital Amaurosis" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 2 | 0 | 2 |
| 2011 | 2 | 0 | 2 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 1 | 2 |
| 2014 | 0 | 1 | 1 |
| 2015 | 4 | 0 | 4 |
| 2016 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2020 | 1 | 1 | 2 |
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Below are the most recent publications written about "Leber Congenital Amaurosis" by people in Profiles.
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
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Adeno-Associated Virus as Gene Delivery Vehicle into the Retina. Methods Mol Biol. 2020; 2092:77-90.
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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 08; 173:32-43.
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 10; 18(10):1044-51.
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Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 Oct; 134(10):1069-78.
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Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):3642-55.
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AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. Gene Ther. 2015 Aug; 22(8):619-27.
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CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes. Sci Rep. 2015 Feb 10; 5:8366.
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Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis. Hum Mol Genet. 2015 Mar 15; 24(6):1755-63.
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Mutation analysis of Leber congenital amaurosis-associated genes in patients with retinitis pigmentosa. Mol Med Rep. 2015 Mar; 11(3):1827-32.