 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
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| Concept/Terms |
Leber Congenital Amaurosis- Leber Congenital Amaurosis
- Amauroses, Leber Congenital
- Amaurosis, Leber Congenital
- Congenital Amauroses, Leber
- Congenital Amaurosis, Leber
- Leber Congenital Amauroses
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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 UAMS Profiles by year, and whether "Leber Congenital Amaurosis" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Leber Congenital Amaurosis" by people in Profiles over the past ten years.
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Ning K, Song E, Sendayen BE, Prosseda PP, Chang KC, Ghaffarieh A, Alvarado JA, Wang B, Haider KM, Berbari NF, Hu Y, Sun Y. Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome. Mol Genet Genomic Med. 2021 01; 9(1):e1566.
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Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. Mol Vis. 2020; 26:423-433.
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