Usher syndrome

Common Name(s)

Usher syndrome

Usher syndrome is the most common syndrome affecting both hearing and vision, and is the leading cause of deafblindness (having no hearing or vision).

There are three types of Usher syndrome, and types I and II are further divided into subtypes. The three types are characterized by severity and age of onset, but the genes that cause each of these types also vary. In general, Usher syndrome is characterized by hearing loss caused by problems in the development of the inner ear and progressive vision loss caused by Retinitis pigmentosa (RP) (See: Retinitis pigmentosa). The hearing loss in Usher syndrome may be apparent at birth (type I and II), or not develop until later in childhood (type III). The vision loss takes longer to develop and may be noticeable before age 10 (type I) or not until later in childhood (types II and III). This vision loss caused by RP affects night vision first, then peripheral vision resulting in blind spots or tunnel vision. Cataracts (a clouding of the lens) have also been reported. The vision loss may progress to the point of blindness, but many retain some vision. The individual may also have problems with balance due to the same inner ear problem that affects their hearing.

Diagnosis of Usher syndrome requires a physical examination and genetic testing. There is no cure for Usher syndrome at this time, but there are various treatment options available. Hearing aids, cochlear implants, and other devices are available to manage hearing loss. There are also options to slow the progression of vision loss. It is important to talk to your child's doctor immediately if you notice any changes in hearing or vision. If your child has been diagnosed with Usher syndrome, talk to your doctor to find the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

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: 22 Sep 2015

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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.

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The Megan Foundation

To raise awareness and funds for research for Usher Syndrome.

http://www.meganfoundation.org

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.

http://www.usher-syndrome.org

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.

http://www.blindness.org

Last Updated: 22 Sep 2015

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

Novel grading system for quantification of cystic macular lesions in Usher syndrome.
 

Author(s): Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said, Jose Alain Sahel

Journal:

 

To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and USH2A mutations.

Last Updated: 15 Dec 2015

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Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.
 

Author(s): Hai-Rong Shu, Huai Bi, Yang-Chun Pan, Hang-Yu Xu, Jian-Xin Song, Jie Hu

Journal:

 

Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. Phenotypic and genetic heterogeneities of this disease make it impractical to obtain a genetic diagnosis by conventional Sanger sequencing.

Last Updated: 17 Sep 2015

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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
 

Author(s): Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui

Journal:

 

Usher syndrome (USH) is the most common disease causing combined deafness and blindness. It is predominantly an autosomal recessive genetic disorder with occasionally digenic cases. Molecular diagnosis of USH patients is important for disease management. Few studies have tried to ...

Last Updated: 4 Sep 2015

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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 7 free, full-text review articles on human participants. First 3 results:

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
 

Author(s): Pranav Mathur, Jun Yang

Journal: Biochim. Biophys. Acta. 2015 Mar;1852(3):406-20.

 

Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in ...

Last Updated: 31 Jan 2015

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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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Genetics and pathological mechanisms of Usher syndrome.
 

Author(s): Denise Yan, Xue Z Liu

Journal: J. Hum. Genet.. 2010 Jun;55(6):327-35.

 

Usher syndrome (USH) comprises a group of autosomal recessively inherited disorders characterized by a dual sensory impairment of the audiovestibular and visual systems. Three major clinical subtypes (USH type I, USH type II and USH type III) are distinguished on the basis of the ...

Last Updated: 25 Jun 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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

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

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 29 Mar 2016

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

Status: Recruiting

Condition Summary: Usher Syndrome

 

Last Updated: 3 Feb 2015

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Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa; Usher Syndrome Type 2; Usher Syndrome Type 3

 

Last Updated: 29 Mar 2016

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