What is Usher syndrome? Usher syndrome is the most common cause of deaf-blindness in the United States. It is a combination of Retinitis Pigmentosa (RP) and some level of hearing loss. There are about 10-15,000 people with Usher syndrome in the United States today. How is Usher syndrome diagnosed? • Visual function tests • Visual fields • Electroretinogram (ERG) • Retinal examination • Hearing tests • Balance tests How is Usher syndrome treated? There is currently no medical treatment for Usher syndrome. Research and genetic testing is currently being conducted. Cochlear implants have been found to be very affective in patients with severe or profound hearing loss. |
Types of Usher Syndrome - There are three different clinical types of Usher syndrome. They are called Usher syndrome type 1 (US1), Usher syndrome type 2 (US2), and Usher syndrome type 3 (US3). All types of the syndrome are inherited in the same pattern -- as autosomal recessive traits. Usher syndrome type 1 (US1) - People with US1 are born nearly deaf. Eyesight usually begins degrading around the age of 5-10, beginning with night blindness. Generally night blindness precedes tunnel vision by years or even decades. The duration of becoming legally blind spans from as early as childhood to as late as the 40’s. People with US1 also struggle with balance or homeostasis, which is the biological balance within the human body. Because of the balance problems, children with US1 are slow to sit without support and rarely learn to walk before they are 18 months old. Usher syndrome type 2 (US2) - People with US2 are born with moderate to severe hearing impairment and normal balance. Although the severity of hearing impairment varies, most of these children perform well in regular classrooms and can benefit from hearing aids. Retinitis Pigmentosa, which is a degeneration of the retina (the part of the eye that receives images of objects), is characterized by blind spots that begin to appear shortly after the teenage years. The visual problems in US2 tend to progress more slowly than the visual problems in US1. Usher syndrome type 3 (US3) - With US3, hearing loss and vision loss due to RP are both progressive. |
