Usher syndrome

Common Name(s)

Usher syndrome

Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Usher syndrome" for support, advocacy or research.

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The Megan Foundation

To raise awareness and funds for research for Usher Syndrome.

Last Updated: 31 Oct 2014

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Usher Syndrome Coalition

The Usher Syndrome Coalition's mission is to raise awareness and accelerate research for the most common cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.

Last Updated: 31 Oct 2014

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 3 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Usher syndrome" for support, advocacy or research.

Logo
The Megan Foundation

To raise awareness and funds for research for Usher Syndrome.

http://www.meganfoundation.org

Last Updated: 31 Oct 2014

View Details
Usher Syndrome Coalition

The Usher Syndrome Coalition's mission is to raise awareness and accelerate research for the most common cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.

http://www.usher-syndrome.org

Last Updated: 31 Oct 2014

View Details
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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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General Support Organizations

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General Resources

Usher Syndrome Registry

The Usher Syndrome Registry bridges the gap between researchers and patients. Building the registry is a fundamental step towards quickening the pace of discovery and ensuring access to patients as more clinical trials are launched.

Updated 31 Oct 2014

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Usher Syndrome Conference Calls

The Coalition holds monthly conference calls in which leading experts talk about the latest news and research impacting families with Usher Syndrome. Live captioning is provided. Transcripts and past presentations can be found on our website.

Updated 31 Oct 2014

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Blogs

Usher Syndrome Blog

The Usher Syndrome Blog touches on a lot of issues that Usher families face.

Updated 31 Oct 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Usher syndrome" returned 122 free, full-text research articles on human participants. First 3 results:

Communication in deafblind adults with Usher syndrome: retrospective observational study.
 

Author(s): Marília Zannon de Andrade Figueiredo, Brasilia Maria Chiari, Bárbara Niegia Garcia de Goulart

Journal: Codas. 2013 ;25(4):319-24.

 

To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness.

Last Updated: 10 Jan 2014

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The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.
 

Author(s): Jennifer B Phillips, Hanna Västinsalo, Jeremy Wegner, Aurélie Clément, Eeva-Marja Sankila, Monte Westerfield

Journal: Gene Expr. Patterns. 2013 Dec;13(8):473-81.

 

Clarin-1 (CLRN1) is the causative gene in Usher syndrome type 3A, an autosomal recessive disorder characterized by progressive vision and hearing loss. CLRN1 encodes Clarin-1, a glycoprotein with homology to the tetraspanin family of proteins. Previous cell culture studies suggest ...

Last Updated: 11 Nov 2013

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Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
 

Author(s): Xiu-Feng Huang, Ping Xiang, Jie Chen, Dong-Jun Xing, Na Huang, Qingjie Min, Feng Gu, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin

Journal:

 

Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic ...

Last Updated: 5 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Usher syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

Structures of usher syndrome 1 proteins and their complexes.
 

Author(s): Lifeng Pan, Mingjie Zhang

Journal: Physiology (Bethesda). 2012 Feb;27(1):25-42.

 

Usher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but ...

Last Updated: 7 Feb 2012

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Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.
 

Author(s): David S Williams

Journal: Vision Res.. 2008 Feb;48(3):433-41.

 

Usher syndrome is a deafness-blindness disorder. The blindness occurs from a progressive retinal degeneration that begins after deafness and after the retina has developed. Three clinical subtypes of Usher syndrome have been identified, with mutations in any one of six different genes ...

Last Updated: 6 Feb 2008

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Usher syndrome: molecular links of pathogenesis, proteins and pathways.
 

Author(s): Hannie Kremer, Erwin van Wijk, Tina Märker, Uwe Wolfrum, Ronald Roepman

Journal: Hum. Mol. Genet.. 2006 Oct;15 Spec No 2():R262-70.

 

Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically and genetically heterogeneous, and to date, eight causative genes have been identified. The proteins encoded by these genes are part of a dynamic protein complex that is present in hair cells ...

Last Updated: 21 Sep 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History and Genetic Studies of Usher Syndrome
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa Syndromic; Congenital Deafness; Usher Syndrome; Retinitis Pigmentosa and Deafness; Progressive Hearing Loss; Retinitis Pigmentosa

 

Last Updated: 11 Nov 2014

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Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
 

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 24 Jun 2014

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Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
 

Status: Recruiting

Condition Summary: Usher Syndrome

 

Last Updated: 27 Sep 2013

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