Usher Syndrome

Usher syndrome is the most common cause of combined deafness and blindness. This inherited genetic disease affects an estimated 400,000 people worldwide.

The major symptoms of Usher syndrome are hearing loss, along with progressive vision loss caused by retinitis pigmentosa and sometimes vestibular dysfunction, or balance issues.

People with Usher syndrome face great challenges with both spoken and visual communication since they have both sight and hearing difficulties.

There are three types of Usher syndrome. Usher syndrome type 1 (USH1), and Usher syndrome type 2 (USH2), are the most common types, accounting for about 95% of affected people in the UK.

People with USH1 are extremely deaf from birth and have severe balance problems which may affect them reaching the expected motor milestones in childhood. Recently, children with USH1 are benefiting from cochlear implants, thereby allowing them to develop speech. The natural history and prognosis varies for each person with Usher syndrome, although it is thought most children with USH1 usually begin to develop RP related vision problems by the time they reach 10 years old. Children with USH2 are born with moderate to severe hearing impairment and normal balance. Although the severity of hearing impairment varies, most of these children can benefit from hearing aids. These children most commonly use speech to communicate. The visual problems related to RP are thought to progress more slowly than in USH1 and also to begin later, usually in late teenage years, or may not even begin until the person’s 30s or 40s.

Children born with USH3 have normal hearing and variable balance problems. Hearing worsens over time and may progress to profound hearing loss. However, the rate at which hearing and sight are lost can vary between affected individuals, even within the same family. Children can develop noticeable hearing problems by their teenage years and usually become deaf by mid- to late adulthood. Vision problems are thought to usually begin during teenage years.

The prognosis varies for every person with Usher syndrome, so it is very difficult for experts to predict at what rate hearing and/or vision challenges will be experienced.

Usher syndrome is a recessively inherited condition and there has been progress in finding the genes that are altered and subsequently cause Usher syndrome.

Further detailed information on Usher syndrome is available from:

The Usher Syndrome Registry informs individuals of clinical trials and the latest advance https://www.usher-registry.org