Other Names for this Disease
- Deafness-retinitis pigmentosa syndrome
- Dystrophia retinae pigmentosa-dysostosis syndrome
- Graefe-Usher syndrome
- Hallgren syndrome
- Retinitis pigmentosa - deafness
Your QuestionI have a family history of Usher syndrome. How can I find out whether I am a carrier of Usher syndrome?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Of the genes identified, those which may cause Usher syndrome type 1 include CDH23, MYO7A, PCDH15, USH1C, CIB2, and USH1G; those which may cause type 2 include USH2A, GPR98, PDZD7, and DFNB31; and those which may cause type 3 include CLRN1.
Many of the genes related to Usher syndrome give instructions to make proteins needed for normal hearing, balance, and vision. The signs and symptoms of Usher syndrome occur when these genes have mutations that impair how they function. In some cases, the exact role of the genes involved is unknown.
GeneTests lists the names of laboratories that currently perform genetic testing for the different types of Usher syndrome. See GeneTests' list of the different types of Usher syndrome and the genetic tests that are available.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Usher syndrome. Genetics Home Reference (GHR). February 2007; http://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed 9/20/2011.
- Bonnet C, El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. February 2012; 25(1):42-49. Accessed 3/3/2014.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IJ; USH1J. OMIM. October 15, 2012; http://omim.org/entry/614869. Accessed 3/4/2014.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IIC; USH2C. OMIM. February 26, 2013; http://omim.org/entry/605472. Accessed 3/4/2014.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IG; USH1G. OMIM. May 17, 2012; http://omim.org/entry/606943. Accessed 3/4/2014.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IID; USH2D. OMIM. February 26, 2013; http://omim.org/entry/611383. Accessed 3/4/2014.
- Usher syndrome. Genetics Home Reference. February, 2007; http://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed 3/3/2014.