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 |
|---|
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2022 | 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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Cheng SY, Punzo C. Update on Viral Gene Therapy Clinical Trials for Retinal Diseases. Hum Gene Ther. 2022 09; 33(17-18):865-878.
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Pennesi ME, Weleber RG, Yang P, Whitebirch C, Thean B, Flotte TR, Humphries M, Chegarnov E, Beasley KN, Stout JT, Chulay JD. Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. Hum Gene Ther. 2018 12; 29(12):1428-1437.
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Zhang W, Li L, Su Q, Gao G, Khanna H. Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis. Hum Gene Ther. 2018 01; 29(1):42-50.
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Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT. Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. Ophthalmology. 2016 07; 123(7):1606-20.
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Vandenberghe LH, Bell P, Maguire AM, Xiao R, Hopkins TB, Grant R, Bennett J, Wilson JM. AAV9 targets cone photoreceptors in the nonhuman primate retina. PLoS One. 2013; 8(1):e53463.
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Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest. 2012 Apr; 122(4):1233-45.