{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T10:11:27Z","timestamp":1793527887424,"version":"4.5.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["ajo.com","clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Ophthalmology"],"published-print":{"date-parts":[[2004,2]]},"DOI":"10.1016\/j.ajo.2003.08.010","type":"journal-article","created":{"date-parts":[[2004,2,7]],"date-time":"2004-02-07T10:16:00Z","timestamp":1076148960000},"page":"271-277","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":62,"title":["Ophthalmologic findings in a large pedigree of 11778\/Haplogroup J Leber hereditary optic neuropathy"],"prefix":"10.1016","volume":"137","author":[{"given":"Federico","family":"Sadun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"De Negri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solange R.","family":"Salomao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Berezovsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Andrade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milton","family":"Moraes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Passos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rubens","family":"Belfort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arlon","family":"Bastos Da Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Quiros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo A.","family":"Sadun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajo.2003.08.010_BIB1","series-title":"Walsh and Hoyt's clinical neuro-ophthalmology","first-page":"742","article-title":"Leber's optic neuropathy","author":"Newman","year":"1998"},{"key":"10.1016\/j.ajo.2003.08.010_BIB2","first-page":"115","article-title":"Clinical picture of LHON","volume":"2","author":"Nikoskelainen","year":"1994","journal-title":"Clin Neurosci"},{"key":"10.1016\/j.ajo.2003.08.010_BIB3","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1001\/archopht.1983.01040020061011","article-title":"Ophthalmscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members","volume":"101","author":"Nikoskelainen","year":"1983","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB4","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/S0002-9394(14)74730-0","article-title":"Optic disc cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy","volume":"113","author":"Ortiz","year":"1992","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/118.2.319","article-title":"The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation","volume":"118","author":"Riordan-Eva","year":"1995","journal-title":"Brain"},{"key":"10.1016\/j.ajo.2003.08.010_BIB6","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1001\/archopht.1977.04450060055002","article-title":"The early phase in Leber's hereditary optic atrophy","volume":"95","author":"Nikoskelainen","year":"1977","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB7","first-page":"169","article-title":"A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy","volume":"100","author":"Sadun","year":"2002","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.ajo.2003.08.010_BIB8","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0002-9394(03)00099-0","article-title":"Extensive investigation of a large Brazilian pedigree of 11778\/haplogroup J Leber's hereditary optic neuropathy","volume":"136","author":"Sadun","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB9","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1001\/archopht.1993.01090020085029","article-title":"Baseline visual field profile of optic neuritis. The experience of the Optic Neuritis Treatment Trial","volume":"111","author":"Keltner","year":"1993","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB10","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1001\/archopht.117.5.573","article-title":"The Ocular Hypertension Treatment Study","volume":"117","author":"Gordon","year":"1999","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB11","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber's hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajo.2003.08.010_BIB12","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/S0161-6420(96)30665-9","article-title":"Ophthalmological findings in Leber's hereditary optic neuropathy with special reference to mtDNA mutations","volume":"103","author":"Nikoskelainen","year":"1996","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajo.2003.08.010_BIB13","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1076\/noph.22.3.187.3724","article-title":"Multicenter study on the frequency of the three primary mutation of mitochondrial DNA in Japanese pedigrees with Leber's Hereditary Optic Neuropathy","volume":"22","author":"Yamada","year":"1999","journal-title":"Neuroophthalmology"},{"key":"10.1016\/j.ajo.2003.08.010_BIB14","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy","volume":"111","author":"Newman","year":"1991","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB15","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/02713689808951221","article-title":"Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's Hereditary Optic Neuropathy","volume":"17","author":"Mashima","year":"1998","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.ajo.2003.08.010_BIB16","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0168-9525(03)00072-6","article-title":"Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction","volume":"19","author":"Carelli","year":"2003","journal-title":"Trends Genet"},{"key":"10.1016\/j.ajo.2003.08.010_BIB17","doi-asserted-by":"crossref","first-page":"8198","DOI":"10.1073\/pnas.88.18.8198","article-title":"X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy","volume":"88","author":"Bu","year":"1991","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajo.2003.08.010_BIB18","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ajmg.a.10211","article-title":"X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients","volume":"119A","author":"Pegoraro","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ajo.2003.08.010_BIB19","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0002-9394(14)75940-9","article-title":"Optic atrophy and glaucomatous cupping","volume":"85","author":"Radius","year":"1978","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB20","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1001\/archopht.1980.01020031030003","article-title":"Optic atrophy. Differential diagnosis by fundus observation alone","volume":"98","author":"Trobe","year":"1980","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB21","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00417-002-0598-0","article-title":"Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy","volume":"241","author":"Mashima","year":"2003","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB22","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/bjo.87.1.48","article-title":"Optic disc morphology of patients with OPA 1 autosomal dominant optic atrophy","volume":"87","author":"Votruba","year":"2003","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB23","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nature Genet"},{"key":"10.1016\/j.ajo.2003.08.010_BIB24","doi-asserted-by":"crossref","first-page":"7743","DOI":"10.1074\/jbc.C200677200","article-title":"Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis","volume":"278","author":"Olichon","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajo.2003.08.010_BIB25","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s00439-001-0645-7","article-title":"A major marker for normal tension glaucoma","volume":"110","author":"Aunt","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.ajo.2003.08.010_BIB26","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1001\/archopht.1997.01100160679003","article-title":"Parapapillary chorioretinal atrophy in patients with ocular hypertension. II. An evaluation of progressive changes","volume":"115","author":"Tezel","year":"1997","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2003.08.010_BIB27","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1016\/S0161-6420(01)00696-0","article-title":"Disc excavation in dominant optic atrophy. Differentiation from normal tension glaucoma","volume":"108","author":"Fournier","year":"2001","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajo.2003.08.010_BIB28","series-title":"Mitochondrial disorders in neurology 2, blue books of practical neurology","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S1877-3419(09)70063-7","article-title":"Leber's hereditary optic neuropathy","author":"Carelli","year":"2002"}],"container-title":["American Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939403009474?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939403009474?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T00:47:24Z","timestamp":1674607644000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002939403009474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["S0002939403009474"],"URL":"https:\/\/doi.org\/10.1016\/j.ajo.2003.08.010","relation":{},"ISSN":["0002-9394"],"issn-type":[{"value":"0002-9394","type":"print"}],"subject":[],"published":{"date-parts":[[2004,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ophthalmologic findings in a large pedigree of 11778\/Haplogroup J Leber hereditary optic neuropathy","name":"articletitle","label":"Article Title"},{"value":"American Journal of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajo.2003.08.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2003 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}