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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Usher syndrome


Other Names for this Disease
  • Deafness-retinitis pigmentosa syndrome
  • Dystrophia retinae pigmentosa-dysostosis syndrome
  • Graefe-Usher syndrome
  • Hallgren syndrome
  • Usher's syndrome
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Symptoms


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What are the signs and symptoms of Usher sydrome?

Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity, and the age when signs and symptoms appear. These types are also further divided into subtypes.[1]

People with Usher syndrome type I are typically born completely deaf, or lose most of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. This type of Usher syndrome also includes problems with the inner ear that affect balance. As a result, children with the condition begin sitting independently and walking later than usual.[1]

Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft, speech sounds such as those of the letters "d" and "t." The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.[1]

People with Usher syndrome type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during the first two decades of life, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf. Vision loss caused by retinitis pigmentosa develops in late childhood or adolescence. People with Usher syndrome type III may also have problems with balance due to inner ear problems. These problems vary among affected individuals.[1]

Last updated: 3/3/2014

References
  1. Usher syndrome. Genetics Home Reference (GHR). February 2007; http://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed 9/20/2011.