{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T21:45:17Z","timestamp":1747172717907,"version":"3.40.5"},"reference-count":26,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T00:00:00Z","timestamp":1658880000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167122002797_as1\"><jats:title>Background:<\/jats:title><jats:p>Leber hereditary optic neuropathy (LHON) is a rare but bilaterally blinding disease. Three characteristic disease-causing point mutations, and other less common mutations, are most often found on the mitochondrially encoded genes of NADH-ubiquinone oxidoreductase core subunits (MT-ND). The purpose of this study is to provide an overview of LHON mutations in Southwestern Ontario and to describe the associated demographic and clinical characteristics.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167122002797_as2\"><jats:title>Methods:<\/jats:title><jats:p>A retrospective genetic and clinical chart review was performed from January 2015 to 2020. Patients were identified within a mitochondrial mutation database and included if a mutation was detected on the MT-ND1, -ND4, or -ND6 genes. A clinical chart review was done on all available patients.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167122002797_as3\"><jats:title>Results:<\/jats:title><jats:p>Forty-five of 63 patients identified had classic disease-causing mutations (6.7% m.3460G&gt;A, 44.4% m.11778G&gt;A, and 48.9% m.14484T&gt;C). Several of the remaining 18 patients had rare mutations previously documented in association with LHON. Of the 14 patients with clinical charts accessible for review, 12 had symptomatic disease, and all but one had bilateral optic neuropathies. Nine patients had classic LHON mutations and 3 had possible novel mutations; 7 were males; 9 had final visual acuity \u2264 20\/200 in at least one eye; and 6 of those had \u226420\/400 in both eyes.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167122002797_as4\"><jats:title>Conclusions:<\/jats:title><jats:p>This study adds to the literature on LHON in Canada, and specifically Southwestern Ontario. The demographic and clinical data regarding LHON in this geographic location, as well as possible novel disease-causing mutations, provide important information to aid clinicians in recognizing cases of LHON that may otherwise be disregarded.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2022.279","type":"journal-article","created":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T08:45:10Z","timestamp":1658911510000},"page":"738-744","source":"Crossref","is-referenced-by-count":1,"title":["Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations"],"prefix":"10.1017","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6270-6709","authenticated-orcid":false,"given":"Heather M.","family":"McDonald","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire A.","family":"Sheldon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4937-2687","authenticated-orcid":false,"given":"Lulu L.C.D.","family":"Bursztyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2022,7,27]]},"reference":[{"key":"S0317167122002797_ref12","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000001023"},{"key":"S0317167122002797_ref9","unstructured":"9. Statistics Canada [Internet]. Ottawa (ON): South West, Ontario. Statistics Canada Catalogue no. 98-316-X2016001. c2017 \u2013 [cited May 11, 2021]. Available at: https:\/\/www12.statcan.gc.ca\/census-recensement\/2016\/dp-pd\/prof\/index.cfm?Lang=E"},{"key":"S0317167122002797_ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.11.014"},{"key":"S0317167122002797_ref14","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.4103\/ijo.IJO_358_17","article-title":"Mitochondrial genetics and therapeutic overview of Leber\u2019s hereditary optic neuropathy","volume":"65","author":"Manickam","year":"2017","journal-title":"Indian J Ophthalmol."},{"key":"S0317167122002797_ref1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000001045"},{"key":"S0317167122002797_ref17","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA120.014603"},{"key":"S0317167122002797_ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20449"},{"key":"S0317167122002797_ref5","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey","year":"1996","journal-title":"Am J Hum Genet."},{"key":"S0317167122002797_ref20","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"key":"S0317167122002797_ref16","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-9109"},{"key":"S0317167122002797_ref10","doi-asserted-by":"publisher","DOI":"10.1086\/432491"},{"key":"S0317167122002797_ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20456"},{"key":"S0317167122002797_ref6","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2014.37"},{"key":"S0317167122002797_ref23","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000000621"},{"key":"S0317167122002797_ref25","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.2.319"},{"key":"S0317167122002797_ref4","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"S0317167122002797_ref13","doi-asserted-by":"publisher","DOI":"10.2174\/138920211794520150"},{"key":"S0317167122002797_ref15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.2012.02506.x"},{"key":"S0317167122002797_ref3","doi-asserted-by":"publisher","DOI":"10.4172\/0974-8369.S1-001"},{"key":"S0317167122002797_ref21","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.127"},{"key":"S0317167122002797_ref22","unstructured":"22. Shemesh, A , Sood, G , Margolin, E. Leber Hereditary Optic Neuropathy (LHON). StatPearls [Internet]. 2022 Jan [cited 2021 May 5]. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482499\/"},{"key":"S0317167122002797_ref7","doi-asserted-by":"publisher","DOI":"10.1177\/1120672120936592"},{"key":"S0317167122002797_ref8","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2013.7971"},{"key":"S0317167122002797_ref24","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.4.979"},{"key":"S0317167122002797_ref26","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.2.160"},{"key":"S0317167122002797_ref2","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000000570"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167122002797","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T13:33:50Z","timestamp":1692884030000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167122002797\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,27]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S0317167122002797"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2022.279","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"type":"print","value":"0317-1671"},{"type":"electronic","value":"2057-0155"}],"subject":[],"published":{"date-parts":[[2022,7,27]]}}}