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

[Usher syndrome: about a case].
 

Author(s): Chama Daoudi, Noureddine Boutimzine, Samia El Haouzi, Omar Lezrek, Samira Tachfouti, Mounir Lezrek, Mina Laghmari, Rajae Daoudi

Journal:

 

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary ...

Last Updated: 5 Oct 2017

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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
 

Author(s): Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit

Journal:

 

Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. USH is clinically and genetically heterogeneous. Ten different causal genes have been reported. We studied the molecular bases of the disease in 18 unrelated ...

Last Updated: 2 Sep 2016

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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
 

Author(s): Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Singh-Estivalet, Saddek Mohand-Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraityte, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell Sampol, Maria Antonia Claveria, Jaume Catala Mora, Shzeena Dad, Lisbeth B Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José-Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit

Journal: Eur. J. Hum. Genet.. 2016 Dec;24(12):1730-1738.

 

Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence ...

Last Updated: 27 Jul 2016

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

[Consanguineous marriage and morbi-mortality, short literature review based on an exceptional association: Usher syndrome and Von Recklinghausen neurofibromatosis].
 

Author(s): Pépin-Williams Atipo-Tsiba

Journal:

 

Usher syndrome is defined by the association of a progressive or non-progressive congenital sensorineural hearing loss with variable severity and a gradually blinding pigmentary retinopathy. Von Recklinghausen neurofibromatosis or Neurofibromatosis type 1 is the major clinically form ...

Last Updated: 27 May 2016

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Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.
 

Author(s): Vanda S Lopes, David S Williams

Journal:

 

Usher syndrome is a deaf-blindness disorder. One of the subtypes, Usher 1B, is caused by loss of function of the gene encoding the unconventional myosin, MYO7A. A variety of different viral-based delivery approaches have been tested for retinal gene therapy to prevent the blindness ...

Last Updated: 2 Jun 2015

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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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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: 18 Oct 2017

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Rate of Progression in USH2A Related Retinal Degeneration
 

Status: Recruiting

Condition Summary: Usher Syndrome, Type 2A; Retinitis Pigmentosa 39

 

Last Updated: 13 Jun 2017

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 13 Sep 2017

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