{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T06:14:34Z","timestamp":1785564874148,"version":"3.56.0"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,1,16]],"date-time":"2017-01-16T00:00:00Z","timestamp":1484524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Mira Godard Research Fund"},{"name":"Brendan Eye Research Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>The co\u2010occurrence of hearing impairment and visual dysfunction is devastating. Most deaf\u2010blind etiologies are genetically determined, the commonest being Usher syndrome (<jats:styled-content style=\"fixed-case\">USH<\/jats:styled-content>). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (<jats:styled-content style=\"fixed-case\">SNHL<\/jats:styled-content>) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound <jats:styled-content style=\"fixed-case\">SNHL<\/jats:styled-content> and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content>). Patients with an abnormal <jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27\/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14\/33) had generalized rod\u2013cone dysfunction on <jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the <jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital <jats:styled-content style=\"fixed-case\">SNHL<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12895","type":"journal-article","created":{"date-parts":[[2016,10,15]],"date-time":"2016-10-15T09:53:06Z","timestamp":1476525186000},"page":"26-33","source":"Crossref","is-referenced-by-count":8,"title":["The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome"],"prefix":"10.1111","volume":"92","author":[{"given":"S.","family":"Kletke","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Batmanabane","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Vincent","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences University of Toronto  Toronto Ontario Canada"},{"name":"Department of Ophthalmology and Vision Sciences The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Li","sequence":"additional","affiliation":[{"name":"Program of Genetics and Genomic Biology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.A.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences University of Toronto  Toronto Ontario Canada"},{"name":"Department of Otolaryngology\u00a0\u2013\u00a0Head &amp; Neck Surgery The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Archie's Cochlear Implant Laboratory The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.C.","family":"Papsin","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u00a0\u2013\u00a0Head &amp; Neck Surgery The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Archie's Cochlear Implant Laboratory The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.L.","family":"Cushing","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u00a0\u2013\u00a0Head &amp; Neck Surgery The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Archie's Cochlear Implant Laboratory The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"H\u00e9on","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences University of Toronto  Toronto Ontario Canada"},{"name":"Department of Ophthalmology and Vision Sciences The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Program of Genetics and Genomic Biology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016485509124281"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLG.0b013e31817fadfa"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e31827b4ba0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.316.7138.1160"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(83)90147-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-013-2514-0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crvi.2013.12.004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2014.05.029"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2015.08.001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-200512001-00016"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2004.04.007"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-0908"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.361"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2008.10.002"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/764873"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000001046"},{"key":"e_1_2_6_18_1","volume-title":"American Academy of Ophthalmology Refractive Management\/Intervention Panel Preferred Practice Pattern\u00ae Guidelines. Refractive errors and refractive surgery","author":"The Refractive Management\/Intervention Preferred Practice Pattern\u00ae Panel","year":"2013"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2005.079657"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-014-9473-7"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-014-9453-y"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.12-10971"},{"issue":"2","key":"e_1_2_6_23_1","first-page":"1","article-title":"Understanding visual fields, part I; Goldmann perimetry","volume":"2","author":"Dersu I","year":"2006","journal-title":"J Ophthalmol Med Technol"},{"key":"e_1_2_6_24_1","volume-title":"Clinical methods: the history, physical, and laboratory examinations","author":"Spector R","year":"1990"},{"key":"e_1_2_6_25_1","volume-title":"Binocular vision and stereopsis","author":"Howard IP","year":"1995"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100468"},{"issue":"5","key":"e_1_2_6_27_1","doi-asserted-by":"crossref","first-page":"230","DOI":"10.3928\/0191-3913-19880901-07","article-title":"Screening of school\u2010aged hearing impaired children","volume":"25","author":"Rogers GL","year":"1988","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e5afb8"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2009.248"},{"key":"e_1_2_6_30_1","first-page":"309","article-title":"Visual function in children with congenital sensorineural deafness","volume":"91","author":"Siatkowski RM","year":"1993","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/70.12.799"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e31819bd7c8"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2012.08.017"},{"key":"e_1_2_6_34_1","first-page":"237","article-title":"Early diagnosis of Usher syndrome in children","volume":"98","author":"Mets MB","year":"2000","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.07.040"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100262"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.283"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-8313"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.2006.00675.x"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.041954"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-6869"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1006\/exer.2000.0863"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0090688"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-21"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15169"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045377"},{"key":"e_1_2_6_47_1","first-page":"1719","article-title":"Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I","volume":"18","author":"Jaijo T","year":"2012","journal-title":"Mol Vis"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810590918118"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9042"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg358"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0543-3"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.92"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0084773"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12895","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12895","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12895","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T22:18:04Z","timestamp":1696285084000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12895"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,16]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1111\/cge.12895"],"URL":"https:\/\/doi.org\/10.1111\/cge.12895","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,16]]}}}