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- Patient Comments: Usher Syndrome - Diagnosis
- What is Usher syndrome?
- Who is affected by Usher syndrome?
- What causes Usher syndrome?
- What are the characteristics of the three types of Usher syndrome?
- How is Usher syndrome diagnosed?
- Is genetic testing for Usher syndrome available?
- How is Usher syndrome treated?
- What research is being conducted on Usher syndrome?
- What are some of the latest research findings?
What research is being conducted on Usher syndrome?
Researchers are currently trying to identify all of the genes that cause Usher syndrome and determine the function of those genes. This research will lead to improved genetic counseling and early diagnosis, and may eventually expand treatment options.
Scientists also are developing mouse models that have the same characteristics as the human types of Usher syndrome. Mouse models will make it easier to determine the function of the genes involved in Usher syndrome. Other areas of study include the early identification of children with Usher syndrome, treatment strategies such as the use of cochlear implants for hearing loss, and intervention strategies to help slow or stop the progression of RP.
What are some of the latest research findings?
NIDCD researchers, along with collaborators from universities in New York and Israel, pinpointed a mutation, named R245X, of the PCDH15 gene that accounts for a large percentage of type 1 Usher syndrome in today's Ashkenazi Jewish population. (The term "Ashkenazi" describes Jewish people who originate from Eastern Europe.) Based on this finding, the researchers conclude that Ashkenazi Jewish infants with bilateral, profound hearing loss who lack another known mutation that causes hearing loss should be screened for the R245X mutation.
Medically reviewed by Edward Spence, MD; American Board of Pediatrics and American Board of Medical Genetics with subspecialties in Clinical Genetics, Clinical Biochemical Genetics, Clinical Molecular Genetics
SOURCE: National Institutes of Health. Usher Syndrome