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
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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 |
|---|
| 2013 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Leber Congenital Amaurosis" by people in Profiles.
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Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice. Adv Exp Med Biol. 2018; 1074:125-131.
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Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. J Biol Chem. 2015 Feb 06; 290(6):3488-99.
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Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration. Proc Natl Acad Sci U S A. 2014 Mar 04; 111(9):3602-7.
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S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA. Hum Mol Genet. 2013 Apr 15; 22(8):1632-42.
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Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65. Biochem Biophys Res Commun. 2010 Jan 22; 391(4):1757-61.