"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 |
|---|
| 2015 | 0 | 1 | 1 |
| 2017 | 3 | 0 | 3 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 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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Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare ACO2-Related Neurometabolic Diagnosis. Neurology. 2023 10 10; 101(15):e1567-e1571.
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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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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.
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Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies. Can J Ophthalmol. 2019 02; 54(1):51-59.
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The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017 08 01; 7(1):7051.
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Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2017 06 01; 58(7):2906-2914.