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
- 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 |
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2013 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2021 | 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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Cideciyan AV, Jacobson SG, Ho AC, Garafalo AV, Roman AJ, Sumaroka A, Krishnan AK, Swider M, Schwartz MR, Girach A. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report. Nat Med. 2021 05; 27(5):785-789.
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Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. Nat Med. 2019 02; 25(2):225-228.
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Arcot Sadagopan K, Battista R, Keep RB, Capasso JE, Levin AV. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. Ophthalmic Genet. 2015 Jun; 36(2):156-9.