{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T12:48:12Z","timestamp":1785847692769,"version":"3.56.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T00:00:00Z","timestamp":1572825600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T00:00:00Z","timestamp":1572825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neuroradiology"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1007\/s00234-019-02302-0","type":"journal-article","created":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T01:02:56Z","timestamp":1572829376000},"page":"241-249","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study"],"prefix":"10.1007","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2991-5840","authenticated-orcid":false,"given":"Maria Camilla","family":"Rossi-Espagnet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Lucignani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Pasquini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Napolitano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Pro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Romano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Diodato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Longo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,4]]},"reference":[{"key":"2302_CR1","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1001\/archopht.1958.00940080296016","volume":"60","author":"TP Kearns","year":"1958","unstructured":"Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 60:280\u2013289. \nhttps:\/\/doi.org\/10.1001\/archopht.1958.00940080296016","journal-title":"AMA Arch Ophthalmol"},{"key":"2302_CR2","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1007\/s10038-008-0289-8","volume":"53","author":"S Yamashita","year":"2008","unstructured":"Yamashita S, Nishino I, Nonaka I, Goto Y-I (2008) Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet 53:598\u2013606. \nhttps:\/\/doi.org\/10.1007\/s10038-008-0289-8","journal-title":"J Hum Genet"},{"key":"2302_CR3","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1055\/s-0031-1299790","volume":"31","author":"R Davis","year":"2011","unstructured":"Davis R, Sue C (2011) The genetics of mitochondrial disease. Semin Neurol 31:519\u2013530. \nhttps:\/\/doi.org\/10.1055\/s-0031-1299790","journal-title":"Semin Neurol"},{"issue":"2","key":"2302_CR4","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1055\/s-2006-924226","volume":"37","author":"RG Hourani","year":"2006","unstructured":"Hourani RG, Barada WM, Al-Kutoubi AM, Hourani MH (2006) Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. Neuropediatrics 37(2):110\u2013113. \nhttps:\/\/doi.org\/10.1055\/s-2006-924226","journal-title":"Neuropediatrics"},{"key":"2302_CR5","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/3-540-27660-2","volume-title":"Myelination and myelin disorders","author":"M Van der Knaap","year":"2005","unstructured":"Van der Knaap M, Valk J (2005) Myelination and myelin disorders, 3rd edn. Springer, New York, pp 231\u2013220","edition":"3"},{"issue":"1","key":"2302_CR6","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1136\/bjo.2008.154187","volume":"94","author":"MA Gr\u00f6nlund","year":"2010","unstructured":"Gr\u00f6nlund MA, Seyedi Honarvar AK, Andersson S et al (2010) Ophthalmological findings in children and young adults with genetically verified mitochondrial disease. Br J Ophthalmol 94(1):121\u2013127. \nhttps:\/\/doi.org\/10.1136\/bjo.2008.154187","journal-title":"Br J Ophthalmol"},{"issue":"12","key":"2302_CR7","doi-asserted-by":"publisher","first-page":"1419","DOI":"10.4103\/0366-6999.183417","volume":"129","author":"M Yu","year":"2016","unstructured":"Yu M, Zhang Z, Wang QQ et al (2016) Clinical and brain magnetic resonance imaging features in a cohort of Chinese patients with Kearns-Sayre syndrome. Chin Med J (Engl) 129(12):1419\u20131424. \nhttps:\/\/doi.org\/10.4103\/0366-6999.183417","journal-title":"Chin Med J (Engl)"},{"issue":"5","key":"2302_CR8","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1007\/BF00713855","volume":"19","author":"V Scaioli","year":"1998","unstructured":"Scaioli V, Antozzi C, Villani F et al (1998) Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy. Ital J Neurol Sci 19(5):291\u2013300","journal-title":"Ital J Neurol Sci"},{"issue":"3","key":"2302_CR9","first-page":"327","volume":"31","author":"EL Berson","year":"1987","unstructured":"Berson EL (1987) Electroretinographic findings in retinitis pigmentosa. Jpn J Ophthalmol 31(3):327\u2013348","journal-title":"Jpn J Ophthalmol"},{"issue":"10","key":"2302_CR10","doi-asserted-by":"publisher","first-page":"6976","DOI":"10.1167\/iovs.14-14737","volume":"55","author":"S Ogawa","year":"2014","unstructured":"Ogawa S, Takemura H, Horiguchi H et al (2014) White matter consequences of retinal receptor and ganglion cell damage. Invest Ophthalmol Vis Sci 55(10):6976\u20136986. \nhttps:\/\/doi.org\/10.1167\/iovs.14-14737","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"10","key":"2302_CR11","doi-asserted-by":"publisher","first-page":"1100","DOI":"10.1002\/nbm.1420","volume":"22","author":"AA Hofling","year":"2009","unstructured":"Hofling AA, Kim JH, Fantz CR et al (2009) Diffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy. NMR Biomed 22(10):1100\u20131106. \nhttps:\/\/doi.org\/10.1002\/nbm.1420","journal-title":"NMR Biomed"},{"key":"2302_CR12","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3389\/fnana.2010.00015","volume":"4","author":"S Hofer","year":"2010","unstructured":"Hofer S (2010) Reconstruction and dissection of the entire human visual pathway using diffusion tensor MRI. Front Neuroanat 4:15. \nhttps:\/\/doi.org\/10.3389\/fnana.2010.00015","journal-title":"Front Neuroanat"},{"issue":"11","key":"2302_CR13","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1002\/jnr.23769","volume":"94","author":"A Poretti","year":"2016","unstructured":"Poretti A, Meoded A, Fatemi A (2016) Diffusion tensor imaging: a biomarker of outcome in Krabbe\u2019s disease. J Neurosci Res 94(11):1108\u20131115. \nhttps:\/\/doi.org\/10.1002\/jnr.23769","journal-title":"J Neurosci Res"},{"issue":"2","key":"2302_CR14","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1136\/bjo.2003.027664","volume":"88","author":"MJ Barron","year":"2004","unstructured":"Barron MJ (2004) The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol 88(2):286\u2013290. \nhttps:\/\/doi.org\/10.1136\/bjo.2003.027664","journal-title":"Br J Ophthalmol"},{"issue":"8","key":"2302_CR15","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1001\/archopht.120.8.1055","volume":"120","author":"LL Cooper","year":"2002","unstructured":"Cooper LL, Hansen RM, Darras BT et al (2002) Rod photoreceptor function in children with mitochondrial disorders. Arch Ophthalmol 120(8):1055\u20131062","journal-title":"Arch Ophthalmol"},{"key":"2302_CR16","doi-asserted-by":"publisher","first-page":"1259","DOI":"10.3174\/ajnr.A4272","volume":"36","author":"DN Manners","year":"2015","unstructured":"Manners DN, Rizzo G, La Morgia C et al (2015) Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies. Am J Neuroradiol 36:1259\u20131265. \nhttps:\/\/doi.org\/10.3174\/ajnr.A4272","journal-title":"Am J Neuroradiol"},{"key":"2302_CR17","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s00401-017-1739-1","volume":"134","author":"MS van der Knaap","year":"2017","unstructured":"van der Knaap MS, Bugiani M (2017) Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol 134:351\u2013382. \nhttps:\/\/doi.org\/10.1007\/s00401-017-1739-1","journal-title":"Acta Neuropathol"},{"key":"2302_CR18","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.rcl.2013.11.008","volume":"52","author":"E Yang","year":"2014","unstructured":"Yang E, Prabhu SP (2014) Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin N Am 52:279\u2013319. \nhttps:\/\/doi.org\/10.1016\/j.rcl.2013.11.008","journal-title":"Radiol Clin N Am"},{"key":"2302_CR19","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1006\/nimg.2002.1267","volume":"17","author":"S-K Song","year":"2002","unstructured":"Song S-K, Sun S-W, Ramsbottom MJ, Chang C, Russell J, Cross AH (2002) Dysmyelination revealed through MRI as increased radial (but unchanged axial) diffusion of water. Neuroimage. 17:1429\u20131436. \nhttps:\/\/doi.org\/10.1006\/nimg.2002.1267","journal-title":"Neuroimage."},{"key":"2302_CR20","doi-asserted-by":"publisher","first-page":"427","DOI":"10.2217\/iim.13.49","volume":"5","author":"WY Aung","year":"2013","unstructured":"Aung WY, Mar S, Benzinger TL (2013) Diffusion tensor MRI as a biomarker in axonal and myelin damage. Imaging Med 5:427\u2013440. \nhttps:\/\/doi.org\/10.2217\/iim.13.49","journal-title":"Imaging Med"},{"key":"2302_CR21","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1002\/mrm.21487","volume":"59","author":"K Schmierer","year":"2008","unstructured":"Schmierer K, Wheeler-Kingshott CAM, Tozer DJ, Boulby PA, Parkes HG, Yousry TA, Scaravilli F, Barker GJ, Tofts PS, Miller DH (2008) Quantitative magnetic resonance of postmortem multiple sclerosis brain before and after fixation. Magn Reson Med 59:268\u2013277. \nhttps:\/\/doi.org\/10.1002\/mrm.21487","journal-title":"Magn Reson Med"},{"key":"2302_CR22","doi-asserted-by":"publisher","first-page":"1702","DOI":"10.1212\/WNL.0b013e3181e0434d","volume":"74","author":"RT Naismith","year":"2010","unstructured":"Naismith RT, Xu J, Tutlam NT, Trinkaus K, Cross AH, Song SK (2010) Radial diffusivity in remote optic neuritis discriminates visual outcomes. Neurology 74:1702\u20131710. \nhttps:\/\/doi.org\/10.1212\/WNL.0b013e3181e0434d","journal-title":"Neurology"},{"key":"2302_CR23","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.1007\/s00234-017-1904-1","volume":"59","author":"C Nishioka","year":"2017","unstructured":"Nishioka C, Liang H-F, Chung C-F, Sun S-W (2017) Disease stage-dependent relationship between diffusion tensor imaging and electrophysiology of the visual system in a murine model of multiple sclerosis. Neuroradiology 59:1241\u20131250. \nhttps:\/\/doi.org\/10.1007\/s00234-017-1904-1","journal-title":"Neuroradiology"},{"key":"2302_CR24","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1007\/s00415-011-6406-1","volume":"259","author":"J Milesi","year":"2012","unstructured":"Milesi J, Rocca MA, Bianchi-Marzoli S, Petrolini M, Pagani E, Falini A, Comi G, Filippi M (2012) Patterns of white matter diffusivity abnormalities in Leber\u2019s hereditary optic neuropathy: a tract-based spatial statistics study. J Neurol 259:1801\u20131807. \nhttps:\/\/doi.org\/10.1007\/s00415-011-6406-1","journal-title":"J Neurol"},{"key":"2302_CR25","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1001\/archneurol.2011.2167","volume":"69","author":"NZ Lax","year":"2012","unstructured":"Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ (2012) Loss of myelin-associated glycoprotein in kearns-sayre syndrome. Arch Neurol 69:490\u2013499. \nhttps:\/\/doi.org\/10.1001\/archneurol.2011.2167","journal-title":"Arch Neurol"}],"container-title":["Neuroradiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00234-019-02302-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00234-019-02302-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00234-019-02302-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:12:56Z","timestamp":1604362376000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00234-019-02302-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,4]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["2302"],"URL":"https:\/\/doi.org\/10.1007\/s00234-019-02302-0","relation":{},"ISSN":["0028-3940","1432-1920"],"issn-type":[{"value":"0028-3940","type":"print"},{"value":"1432-1920","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,4]]},"assertion":[{"value":"25 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 October 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"For this type of study, formal consent is not required.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}