![]() ![]() Medical and Health Sciences Research subject Medicine Identifiers URN: urn:nbn:se:oru:diva-10167 PubMedID: 7696679 OAI: oai:DiVA. Usher syndrome, or more appropriately the Usher syndromes, are named for Charles Usher (1914), a British ophthalmologist who emphasized their hereditary nature.The earliest descriptions were given by Von Graefe (1858), Liebreich (1861), who observed the syndrome among Jews in Berlin, and Hammerschlag (1907). Place, publisher, year, edition, pages1995. As progress towards the identification of the Usher genes is made, the clinician will gradually gain new and effective diagnostic procedures for the identification and delineation of the Usher syndromes. Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. It is not yet clear whether other manifestations such as progressive hearing loss, associated mental retardation, or other physical anomalies are associated with the known Usher genes or whether they represent as yet undiscovered genetic disorders. A minimum of three genes have been identified as being responsible for Usher I two have been identified as being responsible for Usher II. Usher III has a progressive hearing loss with variable vestibular involvement. Usher I is distinguished from Usher II by having a more severe audiologic involvement and by the presence of vestibular areflexia. There are three major phenotypic classes: Usher I, II, and III. This progress impacts the approach of the clinicians in the study of patients who may potentially have Usher syndrome. Recent progress in the characterization of the genetics of Usher syndrome has shown that this disorder is phenotypically and genetically complex. ![]() Usher syndrome is an autosomal-recessive disorder manifested by hearing impairment, retinitis pigmentosa (RP), and variable vestibular deficit. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. 63-72 Article in journal (Refereed) Published Abstract Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. 1995 (English) In: Journal of the American Academy of Audiology, ISSN 1050-0545, Vol.
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