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: 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.

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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.

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

Targeted exon sequencing in Usher syndrome type I.
 

Author(s): Kinga M Bujakowska, Mark Consugar, Emily Place, Shyana Harper, Jaclyn Lena, Daniel G Taub, Joseph White, Daniel Navarro-Gomez, Carol Weigel DiFranco, Michael H Farkas, Xiaowu Gai, Eliot L Berson, Eric A Pierce

Journal:

 

Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. This syndrome is currently thought to be associated with at least six genes, which are encoded by over 180 exons. Here, we present the use of state-of-the-art ...

Last Updated: 30 Dec 2014

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Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
 

Author(s): Gema García-García, Elena Aller, Teresa Jaijo, Maria J Aparisi, Lise Larrieu, Valérie Faugère, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Francoise Roux, José M Millán

Journal:

 

The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa.

Last Updated: 29 Oct 2014

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Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
 

Author(s): Cynthia Perreault-Micale, Alexander Frieden, Caleb J Kennedy, Dana Neitzel, Jessica Sullivan, Nicole Faulkner, Stephanie Hallam, Valerie Greger

Journal: J Mol Diagn. 2014 Nov;16(6):673-8.

 

Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. The Ashkenazi Jewish population has an increased incidence of Usher syndrome ...

Last Updated: 13 Oct 2014

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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

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

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 1 Jun 2015

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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: 9 Mar 2015

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