"Retinal 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.
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
| Descriptor ID |
D058499
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| MeSH Number(s) |
C11.768.585.658
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Retinal Dystrophies".
Below are MeSH descriptors whose meaning is more specific than "Retinal Dystrophies".
This graph shows the total number of publications written about "Retinal Dystrophies" by people in this website by year, and whether "Retinal Dystrophies" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2022 | 3 | 0 | 3 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Retinal Dystrophies" by people in Profiles.
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Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. 2024 Nov 01; 142(11):1081-1086.
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clin Genet. 2023 06; 103(6):699-703.
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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF ?B-Mediated Autoinflammatory Disease with Retinal Dystrophy. Ophthalmology. 2023 04; 130(4):423-432.
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Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide. JAMA Ophthalmol. 2022 07 01; 140(7):730-733.
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Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5).