{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T14:31:22Z","timestamp":1777386682876,"version":"3.51.4"},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,19]],"date-time":"2022-08-19T00:00:00Z","timestamp":1660867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to result from pathogenic variants in 19 identified genes. In this study, we investigated the diagnostic yield of genetic testing in a well\u2010characterised cohort of 58 individuals from 44 families with different types of corneal dystrophy. Individuals diagnosed solely with Fuchs endothelial corneal dystrophy were excluded. Clinical details were obtained from the treating ophthalmologist. Participants and their family members were tested using a gene candidate and exome sequencing approach. We identified a likely molecular diagnosis in 70.5% families (31\/44). The detection rate was significantly higher among probands with a family history of corneal dystrophy (15\/16, 93.8%) than those without (16\/28, 57.1%, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.015), and among those who had undergone corneal graft surgery (9\/9, 100.0%) compared to those who had not (22\/35, 62.9%, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.041). We identified eight novel variants in five genes and identified five families with syndromes associated with corneal dystrophies. Our findings highlight the genetic heterogeneity of corneal dystrophies and the clinical utility of genetic testing in reaching an accurate clinical diagnosis.<\/jats:p>","DOI":"10.1002\/mgg3.2023","type":"journal-article","created":{"date-parts":[[2022,8,20]],"date-time":"2022-08-20T00:40:52Z","timestamp":1660956052000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2015-6577","authenticated-orcid":false,"given":"Emmanuelle","family":"Souzeau","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Owen M.","family":"Siggs","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"},{"name":"Garvan Institute of Medical Research  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean","family":"Mullany","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua M.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark M.","family":"Hassall","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Dubowsky","sequence":"additional","affiliation":[{"name":"SA Pathology  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Chappell","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Breen","sequence":"additional","affiliation":[{"name":"South Australian Genomics Centre (SAGC) South Australian Health and Medical Research Institute  Adelaide South Australia Australia"},{"name":"Robinson Research Institute University of Adelaide  Adelaide South Australia Australia"},{"name":"Adelaide Medical School University of Adelaide  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haae","family":"Bae","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jillian","family":"Nicholl","sequence":"additional","affiliation":[{"name":"SA Pathology  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Hadler","sequence":"additional","affiliation":[{"name":"SA Pathology  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa S.","family":"Kearns","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia Royal Victorian Eye and Ear Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra E.","family":"Staffieri","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia Royal Victorian Eye and Ear Hospital  Melbourne Victoria Australia"},{"name":"Ophthalmology, Department of Surgery University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Ophthalmology Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex W.","family":"Hewitt","sequence":"additional","affiliation":[{"name":"Menzies Institute for Medical Research University of Tasmania  Hobart Tasmania Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[{"name":"Menzies Institute for Medical Research University of Tasmania  Hobart Tasmania Australia"},{"name":"Centre for Ophthalmology and Visual Science University of Western Australia, Lions Eye Institute  Perth Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aanchal","family":"Gupta","sequence":"additional","affiliation":[{"name":"South Australian Institute of Ophthalmology University of Adelaide  Adelaide South Australia Australia"},{"name":"Adelaide Eye &amp; Laser Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8217-1249","authenticated-orcid":false,"given":"Kathryn P.","family":"Burdon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"},{"name":"Centre for Ophthalmology and Visual Science University of Western Australia, Lions Eye Institute  Perth Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Klebe","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"Mills","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/79987"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2003.09.036"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw001"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046904"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1971.00990050029005"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0697\u2010184"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.117.300109"},{"issue":"13","key":"e_1_2_9_9_1","first-page":"2572","article-title":"Keratin 12\u2010deficient mice have fragile corneal epithelia","volume":"37","author":"Kao W. 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