Usher syndrome is a genetic disease causing deaf-blindness. It is essentially progressive retinitis pigmentosa combined with congenital hearing impairment. It is inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. While this is a rare genetic condition, it represents the major cause of syndromic deafness with blindness. The condition gets its name from British ophthalmologist, C.H. Usher, who in 1914 wrote a paper describing several cases in which the link between congenital deafness and retinitis pigmentosa was stressed.

Usher syndrome is divided into three types: I, II and III. Children with type I syndrome are born profoundly deaf, and eyesight usually begins degrading after the first decade of life, beginning with night-blindness. They also experience degrading tunnel vision. If identified at a young age, children usually receive a cochlear implant, and some then use spoken language. Many use Sign language. When vision loss is severe or when one is blind one must use tactile signing. Problems with balance are present in people with Usher I and sometimes Usher III, due to the failure of the hair cells of the inner ear. Type II children are hard-of-hearing with stable hearing throughout their lives. Changes in sight in type II cases usually begin later, sometimes only becoming noticeable after the second decade of life. In the type III syndrome, hearing loss as well as retinitis pigmentosa can occur later in life. Hearing loss in Usher III is progressive.

Usher syndrome I

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Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population.

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