"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
|
| 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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 0 | 1 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2023 | 2 | 0 | 2 |
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Below are the most recent publications written about "Retinal Dystrophies" by people in Profiles.
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Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model. Dis Model Mech. 2023 07 01; 16(7).
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Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (Lond). 2023 12; 37(18):3734-3742.
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Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl. Transl Vis Sci Technol. 2023 04 03; 12(4):17.
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The Role of Ceramide in Inherited Retinal Disease Pathology. Adv Exp Med Biol. 2023; 1415:303-307.
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Hum Genet. 2021 Aug; 140(8):1143-1156.
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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies. Genes (Basel). 2021 04 19; 12(4).
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 03; 23(3):488-497.
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The new landscape of retinal gene therapy. Am J Med Genet C Semin Med Genet. 2020 09; 184(3):846-859.
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Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. Mol Genet Genomic Med. 2020 03; 8(3):e1123.
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Bilateral Subretinal Voretigene Neparvovec-rzyl (Luxturna) Gene Therapy. Ophthalmol Retina. 2019 05; 3(5):450.