"Usher Syndromes" 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.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
| Descriptor ID |
D052245
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| MeSH Number(s) |
C09.218.458.341.186.500.500 C09.218.458.341.887.886 C10.597.751.418.341.186.500.500 C10.597.751.418.341.887.886 C10.597.751.941.162.625.500 C11.768.585.658.500.813 C11.966.075.375.500 C16.131.077.299.500 C16.320.290.684.500 C23.888.592.763.393.341.887.886
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| Concept/Terms |
Usher Syndromes- Usher Syndromes
- Syndrome, Usher
- Syndromes, Usher
- Usher Syndrome
- Usher's Syndrome
- Syndrome, Usher's
- Ushers Syndrome
- Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
- Dystrophia Retinae Pigmentosa Dysostosis Syndrome
- Graefe-Usher Syndrome
- Graefe Usher Syndrome
- Syndrome, Graefe-Usher
- Hallgren Syndrome
- Syndrome, Hallgren
- Retinitis Pigmentosa-Deafness Syndrome
- Retinitis Pigmentosa Deafness Syndrome
- Retinitis Pigmentosa-Deafness Syndromes
- Syndrome, Retinitis Pigmentosa-Deafness
- Syndromes, Retinitis Pigmentosa-Deafness
- Deafness-Retinitis Pigmentosa Syndrome
- Deafness Retinitis Pigmentosa Syndrome
- Deafness-Retinitis Pigmentosa Syndromes
- Pigmentosa Syndromes, Deafness-Retinitis
- Syndrome, Deafness-Retinitis Pigmentosa
- Syndromes, Deafness-Retinitis Pigmentosa
Usher Syndrome, Type I- Usher Syndrome, Type I
- Usher Syndrome, Type 1A
- Retinitis Pigmentosa And Congenital Deafness
- Usher Syndrome, Type 1
- Usher Syndrome, Type I, French Variety
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Below are MeSH descriptors whose meaning is more general than "Usher Syndromes".
Below are MeSH descriptors whose meaning is more specific than "Usher Syndromes".
This graph shows the total number of publications written about "Usher Syndromes" by people in this website by year, and whether "Usher Syndromes" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2018 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Usher Syndromes" by people in Profiles.
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Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire. Invest Ophthalmol Vis Sci. 2024 Jun 03; 65(6):5.
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Functional Vision in Patients With Biallelic USH2A Variants. Am J Ophthalmol. 2024 04; 260:200-211.
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Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years. Am J Ophthalmol. 2023 06; 250:103-110.
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Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. Am J Ophthalmol. 2022 12; 244:98-116.
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Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic Genet. 2021 12; 42(6):664-673.
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The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 10; 9(11):9.
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Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet. 2018 07 20; 19(1):122.
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Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. Am J Hum Genet. 2016 09 01; 99(3):777-784.
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Whole-exome sequencing revealed two novel mutations in Usher syndrome. Gene. 2015 Jun 01; 563(2):215-8.
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Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov; 44(11):1265-71.