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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Coalition for Usher Syndrome Research

To support Usher syndrome research by organizing and building and Usher syndrome community.

Last Updated: 11 Dec 2012

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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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The Megan Foundation

To raise awareness and funds for research for Usher Syndrome.

Last Updated: 29 Nov 2013

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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
Coalition for Usher Syndrome Research

To support Usher syndrome research by organizing and building and Usher syndrome community.

http://www.usher-syndrome.org

Last Updated: 11 Dec 2012

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

View Details
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The Megan Foundation

To raise awareness and funds for research for Usher Syndrome.

http://www.meganfoundation.org

Last Updated: 29 Nov 2013

View Details

 

General Support Organizations

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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 121 free, full-text research articles on human participants. First 3 results:

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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The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
 

Author(s): Samantha Papal, Matteo Cortese, Kirian Legendre, Nasrin Sorusch, Joseph Dragavon, Iman Sahly, Spencer Shorte, Uwe Wolfrum, Christine Petit, Aziz El-Amraoui

Journal: Hum. Mol. Genet.. 2013 Sep;22(18):3773-88.

 

Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness. A delay of opsin trafficking has been observed in the retinal photoreceptor cells of myosin VIIa-deficient mice. We identified spectrin βV, the mammalian β-heavy spectrin, as ...

Last Updated: 23 Aug 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: 18 Jun 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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