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%|
|Aplasia/Hypoplasia of the cerebellum||50%|
|Abnormality of dental enamel||7.5%|
|Cerebral cortical atrophy||7.5%|
|Absent vestibular function||-|
|Autosomal recessive inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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