"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
|
| 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
|
| 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
|
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,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2020 | 2 | 0 | 2 |
| 2021 | 2 | 0 | 2 |
| 2022 | 2 | 0 | 2 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Usher Syndromes" by people in Profiles.
-
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Genet. 2025 Jan; 107(1):44-55.
-
A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8).
-
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. Am J Ophthalmol. 2022 12; 244:98-116.
-
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat. 2022 05; 43(5):613-624.
-
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. 2021 11 09; 10.
-
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). Am J Med Genet A. 2021 12; 185(12):3717-3727.
-
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity. Am J Ophthalmol. 2020 11; 219:87-100.
-
Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020 10; 41(5):401-412.