{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T17:35:16Z","timestamp":1787592916163,"version":"build-2736575974"},"reference-count":39,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["aaojournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1016\/j.ophtha.2010.09.002","type":"journal-article","created":{"date-parts":[[2010,12,4]],"date-time":"2010-12-04T04:32:30Z","timestamp":1291437150000},"page":"964-970","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":42,"title":["Optic Disc Evaluation in Optic Neuropathies"],"prefix":"10.1016","volume":"118","author":[{"given":"Evelyn C.","family":"O'Neill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen V.","family":"Danesh-Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George X.Y.","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex W.","family":"Hewitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Coote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan G.","family":"Crowston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2010.09.002_bib1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/nrneurol.2009.40","article-title":"The optic nerve head in hereditary optic neuropathies","volume":"5","author":"O'Neill","year":"2009","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib2","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/sj.eye.6701591","article-title":"Hereditary optic neuropathies","volume":"18","author":"Newman","year":"2004","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.ophtha.2010.09.002_bib3","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.ophtha.2010.09.002_bib4","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: comparison with normal tension glaucoma","volume":"241","author":"Mashima","year":"2003","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib5","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1001\/archopht.1980.01020031036004","article-title":"Nonglaucomatous excavation of the optic disc","volume":"98","author":"Trobe","year":"1980","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib6","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.ophtha.2010.09.002_bib7","first-page":"844","article-title":"Global data on visual impairment in the year 2002","volume":"82","author":"Resnikoff","year":"2004","journal-title":"Bull World Health Organ"},{"key":"10.1016\/j.ophtha.2010.09.002_bib8","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.exer.2008.11.003","article-title":"The genetics of primary open-angle glaucoma: a review","volume":"88","author":"Allingham","year":"2009","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ophtha.2010.09.002_bib9","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.ohc.2005.05.003","article-title":"Genes associated with human glaucoma","volume":"18","author":"Wiggs","year":"2005","journal-title":"Ophthalmol Clin North Am"},{"key":"10.1016\/j.ophtha.2010.09.002_bib10","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1001\/archopht.125.1.30","article-title":"Genetic etiologies of glaucoma","volume":"125","author":"Wiggs","year":"2007","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib11","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1016\/S0161-6420(92)31774-9","article-title":"Prevalence of glaucoma","volume":"99","author":"Klein","year":"1992","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2010.09.002_bib12","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1001\/archopht.1991.01080080050026","article-title":"Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans","volume":"109","author":"Sommer","year":"1991","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib13","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0039-6257(98)00049-6","article-title":"Ophthalmoscopic evaluation of the optic nerve head","volume":"43","author":"Jonas","year":"1999","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib14","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/S0002-9394(14)74730-0","article-title":"Optic disk 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.ophtha.2010.09.002_bib15","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/bjo.87.1.48","article-title":"Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy","volume":"87","author":"Votruba","year":"2003","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib16","first-page":"146","article-title":"Leber's optic atrophy with myopia masquerading as glaucoma: case report","volume":"17","author":"Lauer","year":"1985","journal-title":"Ann Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib17","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1001\/archneur.1993.00540050022009","article-title":"Atypical Leber's hereditary optic neuropathy with molecular confirmation","volume":"50","author":"Weiner","year":"1993","journal-title":"Arch Neurology"},{"key":"10.1016\/j.ophtha.2010.09.002_bib18","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1136\/bjo.86.2.238","article-title":"The definition and classification of glaucoma in prevalence surveys","volume":"86","author":"Foster","year":"2002","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib19","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3109\/13816819609057894","article-title":"The \u2018GIST\u2019 score: ranking glaucoma for genetic studies","volume":"17","author":"Coote","year":"1996","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib20","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.ajo.2006.12.038","article-title":"Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations","volume":"143","author":"Cohn","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.002_bib21","author":"Wilcox"},{"key":"10.1016\/j.ophtha.2010.09.002_bib22","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","article-title":"Mitochondrial dysfunction as a cause of optic neuropathies","volume":"23","author":"Carelli","year":"2004","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.ophtha.2010.09.002_bib23","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/IJG.0b013e318181284f","article-title":"Mitochondrial dysfunction and glaucoma","volume":"18","author":"Kong","year":"2009","journal-title":"J Glaucoma"},{"key":"10.1016\/j.ophtha.2010.09.002_bib24","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/s10540-007-9045-0","article-title":"Mitochondrial optic neuropathies: how two genomes may kill the same cell type?","volume":"27","author":"Carelli","year":"2007","journal-title":"Biosci Rep"},{"key":"10.1016\/j.ophtha.2010.09.002_bib25","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0197-0186(01)00129-2","article-title":"Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies","volume":"40","author":"Carelli","year":"2002","journal-title":"Neurochem Int"},{"key":"10.1016\/j.ophtha.2010.09.002_bib26","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":"10.1016\/j.ophtha.2010.09.002_bib27","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1086\/346066","article-title":"The epidemiology of Leber hereditary optic neuropathy in the North East of England","volume":"72","author":"Man","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib28","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1136\/jmg.35.10.793","article-title":"Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy","volume":"35","author":"Votruba","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib29","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","article-title":"Dominant optic atrophy mapped to chromosome 3q region","volume":"74","author":"Kjer","year":"1996","journal-title":"Acta Ophthalmol Scand"},{"key":"10.1016\/j.ophtha.2010.09.002_bib30","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"Alexander","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib31","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1093\/hmg\/3.6.977","article-title":"Dominant optic atrophy (OPA1) mapped to chromosome 3q region","volume":"3","author":"Eiberg","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib32","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":"Nat Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib33","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s00439-001-0645-7","article-title":"A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene","volume":"110","author":"Aung","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib34","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s00439-002-0711-9","article-title":"Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma","volume":"110","author":"Aung","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.002_bib35","first-page":"2137","article-title":"No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations","volume":"13","author":"Liu","year":"2007","journal-title":"Mol Vis [serial online]"},{"key":"10.1016\/j.ophtha.2010.09.002_bib36","doi-asserted-by":"crossref","first-page":"4211","DOI":"10.1167\/iovs.06-0295","article-title":"Mitochondrial abnormalities in patients with LHON-like optic neuropathies","volume":"47","author":"Abu-Amero","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2010.09.002_bib37","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1097\/00061198-199902000-00012","article-title":"Morphologic changes in chronic high-pressure experimental glaucoma in rhesus monkeys","volume":"8","author":"Hayreh","year":"1999","journal-title":"J Glaucoma"},{"key":"10.1016\/j.ophtha.2010.09.002_bib38","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1097\/IJG.0b013e31804d23aa","article-title":"Stratus OCT in dominant optic atrophy: features differentiating it from glaucoma","volume":"16","author":"Kim","year":"2007","journal-title":"J Glaucoma"},{"key":"10.1016\/j.ophtha.2010.09.002_bib39","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/0002-9394(79)90565-8","article-title":"A clinicopathologic study of autosomal dominant optic atrophy","volume":"88","author":"Johnston","year":"1979","journal-title":"Am J Ophthalmol"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016164201000970X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016164201000970X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T14:01:53Z","timestamp":1758981713000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S016164201000970X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":39,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S016164201000970X"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2010.09.002","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Optic Disc Evaluation in Optic Neuropathies","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2010.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}