Usher's Syndrome Type III

Gorlin, Robert J.; Tilsner, T. J.; Feinstein, Stephen H.; Duvall, Arndt J.

doi:10.1001/archotol.1979.00790180051011

Archives of Otolaryngology - Head and Neck Surgery

1979

DOI: 10.1001/archotol.1979.00790180051011

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Usher's Syndrome Type III

Robert J. Gorlin¹,

T. J. Tilsner²,

Stephen H. Feinstein³

et al.

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Cited by 53 publications

(14 citation statements)

References 2 publications

Supporting

1

Mentioning

12

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“…Visual symptoms have also proven to occur at an early age, ranging from 1 to 6 years, hence well before the age of 10, as generally observed in USH1 subjects 25 . Only patient TO11 had a late onset of visual symptoms, which went unnoticed until he was 19.…”

Section: Discussionsupporting

confidence: 62%

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Eandi

¹

,

Mariottini

²

,

Torricelli

³

et al. 2017

Sci Rep

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Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

“…Visual symptoms have also proven to occur at an early age, ranging from 1 to 6 years, hence well before the age of 10, as generally observed in USH1 subjects 25 . Only patient TO11 had a late onset of visual symptoms, which went unnoticed until he was 19.…”

Section: Discussionsupporting

confidence: 62%

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Eandi

¹

,

Mariottini

²

,

Torricelli

³

et al. 2017

Sci Rep

Get access via publisher Add to collection Cite

Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

“…Usher I patients have an early onset deafness, which is generally regarded to be congenital. While there have been rare reports of Usher II patients showing progression (27), infant studies on Usher I deafness have not yet been done; it is not known whether humans have a progression of hearing loss similar to that of rd5 mice in early stages.…”

Section: Resultsmentioning

confidence: 99%

Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

Heckenlively

¹

,

Chang

²

,

Erway

³

et al. 1995

Proc. Natl. Acad. Sci. U.S.A.

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Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

“…It accounts for 1.4% of our cohort of Usher patients. At present, there are only a few reports of audiological 15 , 16 , 35 and retinal 25 , 29 , 30 phenotypes in USH3A.…”

Section: Discussionmentioning

confidence: 99%

“…Usher syndrome type 3 (USH3) was defined on the basis of audiological features in the 1970 and 1980s. 1 , 4 , 15 It is characterized by progressive postlingual SNHL and variable (none to progressive) vestibular dysfunction. Language and motor development are normal in most subjects.…”

mentioning

confidence: 99%

Retinal Phenotype of Patients withCLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Smirnov

¹

,

Nassisi

²

,

Mohand‐Saïd

³

et al. 2022

Invest. Ophthalmol. Vis. Sci.

Get access via publisher Add to collection Cite

Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.

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