An Update on the Genetics of Usher Syndrome.pdfVIP

Hindawi Publishing Corporation Journal of Ophthalmology Volume 2011, Article ID 417217, 8 pages doi:10.1155/2011/417217 Review Article An Update on the Genetics of Usher Syndrome ´ ´ 1, 2 1, 2 1, 2 2, 3 Jose M. Millan, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, ´ 2, 3 2, 3 Ascension Gimenez-Pardo, and Carmen Ayuso 1 Unidad de Genetica, Instituto de Investigacion Sanitaria-La Fe, 46009 Valencia, Spain ´ ´ 2 Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), 46010 Valencia, Spain ´ ´ 3 Departamento de Genetica Medica, Instituto de Investigacion Sanitaria, Fundacion Jimenez Dıaz, Avenida Reyes Catolicos 2, ´ ´ ´ ´ ´ ´ ´ 28040 Madrid, Spain Correspondence should be addressed to Carmen Ayuso, cayuso@fjd.es Received 29 June 2010; Accepted 15 November 2010 Academic Editor: Radha Ayyagari ´ ´ Copyright © 2011 Jose M. Millan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deaf