A
genetic disease marked by congenital
deafness followed by the onset of
retinitis pigmentosa.
Originally described in a 1914 paper by British ophthalmologist C.H. Usher, the syndrome is transmitted by an autosomal recessive gene - all children of two affected parents will have the condition, and the children of one parent with Usher and one without will be carriers.
While the deafness may be present at birth or within the first ten years, the vision loss associated with Usher Syndrome does not usually manifest itself until after the age of twenty. An individual's balance is generally affected as well.
It is believed that more than half of the estimated 16,000 deaf-blind Americans have Usher Syndrome.
more eponymous syndromes