"Cone-Rod Dystrophies" 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.
Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.
| Descriptor ID |
D000071700
|
| MeSH Number(s) |
C11.270.152 C11.768.585.658.250 C16.320.290.152
|
| Concept/Terms |
Cone-Rod Dystrophies- Cone-Rod Dystrophies
- Cone Rod Dystrophies
- Retinal Cone-Rod Dystrophy
- Cone-Rod Dystrophies, Retinal
- Cone-Rod Dystrophy, Retinal
- Retinal Cone Rod Dystrophy
- Retinal Cone-Rod Dystrophies
- Cone-Rod Retinal Dystrophy
- Cone Rod Retinal Dystrophy
- Cone-Rod Retinal Dystrophies
- Retinal Dystrophies, Cone-Rod
- Retinal Dystrophy, Cone-Rod
- Cone-Rod Dystrophy
- Cone Rod Dystrophy
- Cone-Rod Degenerations
- Cone Rod Degenerations
- Cone-Rod Degeneration
|
Below are MeSH descriptors whose meaning is more general than "Cone-Rod Dystrophies".
Below are MeSH descriptors whose meaning is more specific than "Cone-Rod Dystrophies".
This graph shows the total number of publications written about "Cone-Rod Dystrophies" by people in this website by year, and whether "Cone-Rod Dystrophies" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 1 | 1 | 2 |
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Below are the most recent publications written about "Cone-Rod Dystrophies" by people in Profiles.
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A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. Hum Mol Genet. 2018 12 15; 27(24):4204-4217.
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Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene. Eur J Med Genet. 2018 Jul; 61(7):384-387.