{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:28:00Z","timestamp":1790015280050,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T00:00:00Z","timestamp":1731974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T00:00:00Z","timestamp":1731974400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30EY014801"],"award-info":[{"award-number":["P30EY014801"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC005575"],"award-info":[{"award-number":["R01DC005575"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC017264"],"award-info":[{"award-number":["R01DC017264"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R25DC020726"],"award-info":[{"award-number":["R25DC020726"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC022239"],"award-info":[{"award-number":["R01DC022239"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Usher syndrome (USH) is a rare, autosomal\u2010recessive genetic disorder and a leading cause of early onset deaf\u2010blindness. A clinical diagnosis is made by the presence of retinitis pigmentosa (RP) with sensorineural hearing loss (SNHL). Subtype (USH1, USH2, USH3) is determined by severity and age of onset. Molecular testing is able to further distinguish USH subtypes by causative gene. As gene therapy strategies continue to be explored for USH, it is important to know the underlying genetic cause and to coordinate care among an interdisciplinary team.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reviewed charts of 198 individuals presenting to the RP clinic at Bascom Palmer Eye Institute (BPEI) for suspected USH. Demographic information, USH clinical diagnosis, molecular testing, molecular diagnosis, and audiological data were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of the 198 patients reviewed, 190 (96%) met clinical criteria for USH and received a clinical diagnosis. There were 67 (35%) that had a genetic test with a pathogenic molecular diagnosis. The average ages at molecular diagnosis were USH1B, 20\u2009years old; USH2A, 37\u2009years old; USH2C, 50\u2009years old. Of the 67 with a molecular diagnosis, 23 (34%) established ophthalmic care and 8 of these (11%) established audiological care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion\/Conclusion<\/jats:title>\n                    <jats:p>Molecular testing and diagnosis should be part of the routine care of USH individuals to facilitate earlier interventions and coordinated care between ophthalmology and audiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Level of Evidence<\/jats:title>\n                    <jats:p>\n                      4\n                      <jats:italic>Laryngoscope<\/jats:italic>\n                      , 135:1777\u20131780, 2025\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/lary.31911","type":"journal-article","created":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T07:59:10Z","timestamp":1732003150000},"page":"1777-1780","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care"],"prefix":"10.1002","volume":"135","author":[{"given":"Brett M.","family":"Colbert","sequence":"first","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."},{"name":"Medical Scientist Training Program University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly","family":"Smeal","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zachary J.","family":"Cromar","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Potyra","family":"Rosa","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Blanton","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byron L.","family":"Lam","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4758-6470","authenticated-orcid":false,"given":"Xue Z.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida U.S.A."},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida U.S.A."},{"name":"Department of Biochemistry University of Miami Miller School of Medicine  Miami Florida U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AUD.0000000000001066"},{"key":"e_1_2_5_3_1","first-page":"827","article-title":"Genetic analysis of Tunisian families with usher syndrome type 1: toward improving early molecular diagnosis","volume":"22","author":"Ben\u2010Rebeh I","year":"2016","journal-title":"Mol Vis"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2012.08.017"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/417217"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crvi.2013.12.004"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000690"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10132915"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000639"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22083910"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-020-0763-1"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.62.2.13"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1044\/2020_PERSP-20-00013"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.31911","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/lary.31911","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.31911","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T04:26:21Z","timestamp":1780028781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.31911"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,19]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/lary.31911"],"URL":"https:\/\/doi.org\/10.1002\/lary.31911","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,19]]},"assertion":[{"value":"2024-07-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}