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  • Usher Syndrome

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  • Older man consulting with ophthalmologist

    Usher Syndrome Diagnosis and Treatment

    Leer en Español:
    Diagnóstico y Tratamiento de Síndrome de Usher
    Written By: Daniel Porter
    Reviewed By: G Atma Vemulakonda, MD
    Jul. 03, 2019

    Usher syndrome affects hearing, balance, and vision. So diagnosis of the disorder usually includes the evaluation of all three senses.

    An ophthalmologist evaluation of the eyes may include:

    • a visual field test to measure peripheral (side) vision
    • an electroretinogram (ERG) to measure the response of the eye's light-sensitive cells
    • and a retinal examination to observe the retina and other structures in the back of the eye.

    How is Usher syndrome treated?

    Currently there is no known cure for Usher syndrome or for retinitis pigmentosa (RP). The best treatment involves early diagnosis so that educational programs can begin as soon as possible, depending on the severity of the vision loss and the age and ability of the child.

    Treatment may include:

    • instruction on reading with Braille  
    • and learning to use low-vision devices and techniques. 

    Some research has shown that vitamin A may slow the progression of certain forms of RP, but there is concern that high intake of vitamin A may lead to worsening of other eye conditions. Your ophthalmologist can advise you about the risks and benefits of Vitamin A and how much you can safely take. Taking too much vitamin A can be harmful, and evidence of vitamin A’s effect on RP progression is not substantial.

    Recently, inherited diseases similar to RP and Usher syndrome have been successfully treated with genetic therapy. This is when scientists create a gene in a lab. This corrected gene is then inserted into the body. Hopefully, the corrected gene replaces the bad gene that caused the disease. It is likely that such treatment may be available for Usher’s soon as well.

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    Usher Syndrome Symptoms

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