{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:24:25Z","timestamp":1789068265831,"version":"build-2803163510"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,10,23]],"date-time":"2014-10-23T00:00:00Z","timestamp":1414022400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/s13023-014-0158-9","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T06:13:42Z","timestamp":1413958422000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Leber\u2019s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients"],"prefix":"10.1186","volume":"9","author":[{"given":"Konstantin","family":"Dimitriadis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Leonhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Yu-Wai-Man","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew Anthony","family":"Kirkman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Korsten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irenaeus F","family":"De Coo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick Francis","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,10,23]]},"reference":[{"key":"158_CR1","first-page":"77","volume":"57","author":"AE Harding","year":"1995","unstructured":"Harding AE, Sweeney MG, Govan GG, Riordan-Eva P: Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet. 1995, 57: 77-86.","journal-title":"Am J Hum Genet"},{"key":"158_CR2","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1038\/sj.eye.6701591","volume":"18","author":"NJ Newman","year":"2004","unstructured":"Newman NJ, Biousse V: Hereditary optic neuropathies. Eye (Lond). 2004, 18: 1144-1160. 10.1038\/sj.eye.6701591.","journal-title":"Eye (Lond)"},{"key":"158_CR3","first-page":"481","volume":"59","author":"DA Mackey","year":"1996","unstructured":"Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S: Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1996, 59: 481-485.","journal-title":"Am J Hum Genet"},{"key":"158_CR4","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1086\/346066","volume":"72","author":"PY Man","year":"2003","unstructured":"Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF: The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet. 2003, 72: 333-339. 10.1086\/346066.","journal-title":"Am J Hum Genet"},{"key":"158_CR5","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.ajhg.2008.07.004","volume":"83","author":"HR Elliott","year":"2008","unstructured":"Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF: Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet. 2008, 83: 254-260. 10.1016\/j.ajhg.2008.07.004.","journal-title":"Am J Hum Genet"},{"key":"158_CR6","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1016\/j.ajo.2005.11.007","volume":"141","author":"L Spruijt","year":"2006","unstructured":"Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE: Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006, 141: 676-682. 10.1016\/j.ajo.2005.11.007.","journal-title":"Am J Ophthalmol"},{"key":"158_CR7","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1111\/j.1442-9071.1992.tb00937.x","volume":"20","author":"DA Mackey","year":"1992","unstructured":"Mackey DA, Buttery RG: Leber hereditary optic neuropathy in Australia. Aust N Z J Ophthalmol. 1992, 20: 177-184. 10.1111\/j.1442-9071.1992.tb00937.x.","journal-title":"Aust N Z J Ophthalmol"},{"key":"158_CR8","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1097\/00041327-199803000-00007","volume":"18","author":"ET Ajax","year":"1998","unstructured":"Ajax ET, Kardon R: Late-onset Leber\u2019s hereditary optic neuropathy. J Neuroophthalmol. 1998, 18: 30-31. 10.1097\/00041327-199803000-00007.","journal-title":"J Neuroophthalmol"},{"key":"158_CR9","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1038\/sj.eye.6701388","volume":"18","author":"S Goyal","year":"2004","unstructured":"Goyal S, Riordan-Eva P, Coakes RL: Late onset of Leber\u2019s hereditary optic neuropathy precipitated by anaemia. Eye (Lond). 2004, 18: 1017-1018. 10.1038\/sj.eye.6701388.","journal-title":"Eye (Lond)"},{"key":"158_CR10","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.survophthal.2008.04.003","volume":"53","author":"VA Shah","year":"2008","unstructured":"Shah VA, Randhawa S, Mizen T, Lee AG, Foroozan R: You\u2019re too old for that. Surv Ophthalmol. 2008, 53: 403-410. 10.1016\/j.survophthal.2008.04.003.","journal-title":"Surv Ophthalmol"},{"key":"158_CR11","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1097\/WNO.0b013e3181772db4","volume":"28","author":"P Yu-Wai-Man","year":"2008","unstructured":"Yu-Wai-Man P, Bateman DE, Hudson G, Griffiths PG, Chinnery PF: Leber hereditary optic neuropathy presenting in a 75-year-old man. J Neuroophthalmol. 2008, 28: 155-10.1097\/WNO.0b013e3181772db4.","journal-title":"J Neuroophthalmol"},{"key":"158_CR12","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1136\/bjo.2009.161539","volume":"95","author":"S Giraudet","year":"2011","unstructured":"Giraudet S, Lamirel C, Amati-Bonneau P, Reynier P, Bonneau D, Milea D, Cochereau I: Never too old to harbour a young man\u2019s disease?. Br J Ophthalmol. 2011, 95: 887-10.1136\/bjo.2009.161539.","journal-title":"Br J Ophthalmol"},{"key":"158_CR13","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1097\/WNO.0b013e3181a591b5","volume":"29","author":"A Decanini-Mancera","year":"2009","unstructured":"Decanini-Mancera A, Harrison AR, Lee MS: Another case of leber hereditary optic neuropathy in an octogenarian. J Neuroophthalmol. 2009, 29: 159-160. 10.1097\/WNO.0b013e3181a591b5.","journal-title":"J Neuroophthalmol"},{"key":"158_CR14","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1097\/WNO.0b013e3181772320","volume":"28","author":"LR Dagi","year":"2008","unstructured":"Dagi LR, Rizzo JF, Cestari DM: Leber hereditary optic neuropathy in an octogenarian. J Neuroophthalmol. 2008, 28: 156-10.1097\/WNO.0b013e3181772320.","journal-title":"J Neuroophthalmol"},{"key":"158_CR15","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1136\/bjo.76.9.571","volume":"76","author":"FX Borruat","year":"1992","unstructured":"Borruat FX, Green WT, Graham EM, Sweeney MG, Morgan-Hughes JA, Sanders MD: Late onset Leber\u2019s optic neuropathy: a case confused with ischaemic optic neuropathy. Br J Ophthalmol. 1992, 76: 571-573. 10.1136\/bjo.76.9.571.","journal-title":"Br J Ophthalmol"},{"key":"158_CR16","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1111\/ceo.12091","volume":"41","author":"ML Pfeiffer","year":"2013","unstructured":"Pfeiffer ML, Hashemi N, Foroozan R, Lee AG: Late-onset Leber hereditary optic neuropathy. Clin Experiment Ophthalmol. 2013, 41: 690-693.","journal-title":"Clin Experiment Ophthalmol"},{"key":"158_CR17","doi-asserted-by":"publisher","first-page":"2317","DOI":"10.1093\/brain\/awp158","volume":"132","author":"MA Kirkman","year":"2009","unstructured":"Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF: Gene-environment interactions in Leber hereditary optic neuropathy. Brain. 2009, 132: 2317-2326. 10.1093\/brain\/awp158.","journal-title":"Brain"},{"key":"158_CR18","doi-asserted-by":"publisher","first-page":"3112","DOI":"10.1167\/iovs.08-3166","volume":"50","author":"MA Kirkman","year":"2009","unstructured":"Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P: Quality of life in patients with leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2009, 50: 3112-3115. 10.1167\/iovs.08-3166.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"158_CR19","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/S0002-9394(00)00716-9","volume":"131","author":"S Shaikh","year":"2001","unstructured":"Shaikh S, Ta C, Basham AA, Mansour S: Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection. Am J Ophthalmol. 2001, 131: 143-145. 10.1016\/S0002-9394(00)00716-9.","journal-title":"Am J Ophthalmol"},{"issue":"Pt 2","key":"158_CR20","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1093\/brain\/118.2.319","volume":"118","author":"P Riordan-Eva","year":"1995","unstructured":"Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE: The clinical features of Leber\u2019s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995, 118 (Pt 2): 319-337. 10.1093\/brain\/118.2.319.","journal-title":"Brain"},{"key":"158_CR21","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1136\/bjo.73.4.314","volume":"73","author":"TA Berninger","year":"1989","unstructured":"Berninger TA, von Meyer L, Siess E, Schon O, Goebel FD: Leber\u2019s hereditary optic atrophy: further evidence for a defect of cyanide metabolism?. Br J Ophthalmol. 1989, 73: 314-316. 10.1136\/bjo.73.4.314.","journal-title":"Br J Ophthalmol"},{"key":"158_CR22","doi-asserted-by":"publisher","first-page":"122","DOI":"10.3341\/kjo.1996.10.2.122","volume":"10","author":"JM Hwang","year":"1996","unstructured":"Hwang JM, Park HW: Carbon monoxide poisoning as an epigenetic factor for Leber\u2019s hereditary optic neuropathy. Korean J Ophthalmol. 1996, 10: 122-123.","journal-title":"Korean J Ophthalmol"},{"key":"158_CR23","first-page":"15","volume":"12","author":"LG DuBois","year":"1992","unstructured":"DuBois LG, Feldon SE: Evidence for a metabolic trigger for Leber\u2019s hereditary optic neuropathy. A case report. J Clin Neuroophthalmol. 1992, 12: 15-16.","journal-title":"J Clin Neuroophthalmol"},{"key":"158_CR24","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1093\/brain\/awq276","volume":"134","author":"C Giordano","year":"2011","unstructured":"Giordano C, Montopoli M, Perli E, Orlandi M, Fantin M, Ross-Cisneros FN, Caparrotta L, Martinuzzi A, Ragazzi E, Ghelli A, Sadun AA, d'Amati G, Carelli V: Oestrogens ameliorate mitochondrial dysfunction in Leber\u2019s hereditary optic neuropathy. Brain. 2011, 134: 220-234. 10.1093\/brain\/awq276.","journal-title":"Brain"},{"key":"158_CR25","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.mito.2013.05.011","volume":"13","author":"M Badura-Stronka","year":"2013","unstructured":"Badura-Stronka M, Wawrocka A, Zawieja K, Silska S, Krawczynski MR: Severe manifestation of Leber\u2019s hereditary optic neuropathy due to 11778G > A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome. Mitochondrion. 2013, 13: 831-834. 10.1016\/j.mito.2013.05.011.","journal-title":"Mitochondrion"},{"key":"158_CR26","doi-asserted-by":"publisher","first-page":"e63446","DOI":"10.1371\/journal.pone.0063446","volume":"8","author":"A Thouin","year":"2013","unstructured":"Thouin A, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P: Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. PLoS One. 2013, 8: e63446-10.1371\/journal.pone.0063446.","journal-title":"PLoS One"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-014-0158-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-014-0158-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-014-0158-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-014-0158-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T03:20:40Z","timestamp":1717471240000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-014-0158-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,23]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["158"],"URL":"https:\/\/doi.org\/10.1186\/s13023-014-0158-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,23]]},"assertion":[{"value":"14 July 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"158"}}