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
|
| 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 |
|---|
| 2011 | 1 | 1 | 2 |
| 2015 | 1 | 1 | 2 |
| 2019 | 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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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic Genet. 2019 04; 40(2):110-117.
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Cone Health and Retinoids. Prog Mol Biol Transl Sci. 2015; 134:465-76.
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Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy. Ophthalmology. 2015 Apr; 122(4):862-4.
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RPE65 is present in human green/red cones and promotes photopigment regeneration in an in vitro cone cell model. J Neurosci. 2011 Dec 14; 31(50):18618-26.
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Light prevents exogenous 11-cis retinal from maintaining cone photoreceptors in chromophore-deficient mice. Invest Ophthalmol Vis Sci. 2011 Apr; 52(5):2412-6.