People with Usher syndrome type I are typically born completely deaf, or lose most of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. This type of Usher syndrome also includes problems with the inner ear that affect balance. As a result, children with the condition begin sitting independently and walking later than usual.
Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft, speech sounds such as those of the letters "d" and "t." The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.
People with Usher syndrome type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during the first two decades of life, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf. Vision loss caused by retinitis pigmentosa develops in late childhood or adolescence. People with Usher syndrome type III may also have problems with balance due to inner ear problems. These problems vary among affected individuals.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of retinal pigmentation||90%|
|Sensorineural hearing impairment||90%|
|Visual field defect||90%|
|Abnormality of cardiovascular system physiology||7.5%|
|Abnormality of dental color||7.5%|
|Abnormality of dental enamel||7.5%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Cerebral cortical atrophy||7.5%|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
International Usher Syndrome Conference
Thursday, July 10, 2014 -
Saturday, July 12, 2014
Location: Joseph B. Martin Conference Center at Harvard Medical School, Cambridge, MA
The goals are to: 1) Promote research in emerging areas of USH diagnosis, prevention, treatment, and cure; 2) Present new research findings and develop future research strategies; (3) Promote collaboration among researchers and clinicians from different institutions and different research focus areas who study USH; (4) Educate patients/families affected by Usher Syndrome about research advances and promote collaboration between these families and USH researchers; 5) Make researchers and clinicians aware of the needs of USH patients and families to direct new research priorities.
Contact: Bracie Watson, Jr., Ph.D.,(301) 402-3458, email@example.com
Co-funding Institute(s): National Institute on Deafness and Other Communication Disorders, Office of Rare Diseases Research
Workshop on Potential Therapeutic Use of Neurotrophic Factors for Ocular Diseases Thursday, November 7, 1996
Location: NIH Campus, Bethesda, MD
Contact: Dr. Maria Giovanni(301) 496-1884
Co-funding Institute(s): National Eye Institute
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How is Usher syndrome inherited? What is the gene for Usher syndrome? See answer
Since Usher syndrome is a ciliopathy, will my daughter who has it exhibit symptoms of other ciliopathies? She has many chronic health problems including irregular menstrual cycles, migraine headaches, and obesity. See answer
I have a family history of Usher syndrome. How can I find out whether I am a carrier of Usher syndrome? See answer