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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?
How is Usher syndrome treated?
Currently, there is no cure for Usher syndrome. The best treatment involves early identification so that educational programs can begin as soon as possible. The exact nature of these programs will depend on the severity of the hearing and vision loss as well as the age and abilities of the person. Typically, treatment will include hearing aids, assistive listening devices, cochlear implants, or other communication methods such as American Sign Language; orientation and mobility training; and communication services and independent-living training that may include Braille instruction, low-vision services, or auditory training.
Some ophthalmologists believe that a high dose of vitamin A palmitate may slow, but not halt, the progression of retinitis pigmentosa. This belief stems from the results of a long-term clinical trial supported by the National Eye Institute and the Foundation for Fighting Blindness. Based on these findings, the researchers recommend that most adult patients with the common forms of RP take a daily supplement of 15,000 IU (international units) of vitamin A in the palmitate form under the supervision of their eye care professional. (Because people with type 1 Usher syndrome did not take part in the study, high-dose vitamin A is not recommended for these patients.) People who are considering taking vitamin A should discuss this treatment option with their health care provider before proceeding. Other guidelines regarding this treatment option include:
- Do not substitute vitamin A palmitate with a beta-carotene supplement.
- Do not take vitamin A supplements greater than the recommended dose of 15,000 IU or modify your diet to select foods with high levels of vitamin A.
- Women who are considering pregnancy should stop taking the high-dose supplement of vitamin A three months before trying to conceive due to the increased risk of birth defects.
- Women who are pregnant should stop taking the high-dose supplement of vitamin A due to the increased risk of birth defects.