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Usher SyndromeUsher syndrome is a genetic disease causing deaf-blindness. It is essentially retinitis pigmentosa combined with progressive hearing loss. It is inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. Usher syndrome is divided into three types, I, II and III. Children with type I syndrome are born nearly deaf, and eyesight usually begins degrading around the age 5-10 years, beginning with night-blindness. If identified at a young age, children usually receive a cochlear implant, and generally learn spoken language. Sign language is also sometimes used, though when vision loss becomes severe one must revert to tactile signing. Problems with balance are usually present, due to the failure of the hair cells of the inner ear. Type II children are hard-of-hearing, and changes in sight begin usually at the age of 5-7. In the type III syndrome, hearing loss as well as retinitis pigmentosa can occur later in life. Usher syndrome I Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population. Mutations in the CDH23, MYO7A, PCDH15, USH1C, and USH1G genes cause Usher syndrome type I. Usher syndrome type I can be caused by mutations in one of several different genes. These genes function in the development and maintenance of inner ear structures such as hair cells (stereocilia), which transmit sound and motion signals to the brain. Alterations in these genes can cause an inability to maintain balance (vestibular dysfunction) and hearing loss. The genes also play a role in the development and stability of the retina by influencing the structure and function of rod and cone cells. Mutations that affect the normal function of these genes can result in retinal deterioration and vision loss. Usher syndrome II Usher syndrome type II occurs at least as frequently as type I, because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I. Mutations in the MASS1 and USH2A genes cause Usher syndrome type II. Usher syndrome type II may be caused by mutations in any of three different genes, two of which have been identified to date. These genes are called USH2A and MASS1. Usherin, the protein made by the USH2A gene, is located in supportive tissue in the inner ear and retina. Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss. The precise function of the protein made by the MASS1 gene is not yet known. Usher syndrome III The frequency of Usher syndrome type III is highest in the Finnish population, but it has been noted rarely in a few other ethnic groups. Mutations in the USH3A gene cause Usher syndrome type III. Usher syndrome type III can be caused by mutations in one of at least two genes, only one of which (USH3A) has been identified. The USH3A gene makes a protein that is important for the development and maintenance of the inner ear and retina. The protein's function in these structures, and its role in hearing and vision loss, have not yet been fully explained. External link This article incorporates public domain text from The U.S. National Library of Medicine
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