{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T06:03:04Z","timestamp":1782540184237,"version":"3.54.5"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T00:00:00Z","timestamp":1548806400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1007\/s10633-019-09673-y","type":"journal-article","created":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T05:44:22Z","timestamp":1548827062000},"page":"147-152","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome"],"prefix":"10.1007","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9860-3736","authenticated-orcid":false,"given":"Kenji","family":"Ozawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyofumi","family":"Mochizuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Manabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuaki","family":"Yoshikura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayoshi","family":"Shimohata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,1,30]]},"reference":[{"issue":"6158","key":"9673_CR1","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/331717a0","volume":"331","author":"IJ Holt","year":"1988","unstructured":"Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331(6158):717\u2013719","journal-title":"Nature"},{"issue":"4884","key":"9673_CR2","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1126\/science.3201231","volume":"242","author":"DC Wallace","year":"1988","unstructured":"Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ II, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy. Science 242(4884):1427\u20131430","journal-title":"Science"},{"issue":"6302","key":"9673_CR3","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1038\/348651a0","volume":"348","author":"Y Goto","year":"1990","unstructured":"Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348(6302):651\u2013653","journal-title":"Nature"},{"issue":"8","key":"9673_CR4","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1136\/jnnp-2012-303528","volume":"84","author":"V Nesbitt","year":"2013","unstructured":"Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R (2013) The UK MRC mitochondrial disease patient cohort study: clinical phenotypes associated with the m.3243A\u2009>\u2009G mutation\u2013implications for diagnosis and management. J Neurol Neurosurg Psychiatry 84(8):936\u2013938. \n                    https:\/\/doi.org\/10.1136\/jnnp-2012-303528","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"9673_CR5","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1016\/0925-4439(91)90042-8","volume":"1097","author":"Y Goto","year":"1991","unstructured":"Goto Y, Nonaka I, Horai S (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1097(3):238\u2013240","journal-title":"Biochim Biophys Acta"},{"issue":"2","key":"9673_CR6","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/0022-510X(93)90219-O","volume":"115","author":"R Sakuta","year":"1993","unstructured":"Sakuta R, Goto Y, Horai S, Nonaka I (1993) Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study. J Neurol Sci 115(2):158\u2013160","journal-title":"J Neurol Sci"},{"issue":"1","key":"9673_CR7","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1097\/WNO.0b013e3180334cb0","volume":"27","author":"Y Shinmei","year":"2007","unstructured":"Shinmei Y, Kase M, Suzuki Y, Nitta T, Chin S, Yoshida K, Goto Y, Nagashima T, Ohno S (2007) Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNA. J Neuroophthalmol 27(1):22\u201328","journal-title":"J Neuroophthalmol"},{"issue":"2","key":"9673_CR8","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1212\/WNL.45.2.286","volume":"45","author":"JM Shoffner","year":"1995","unstructured":"Shoffner JM, Bialer MG, Pavlakis SG, Lott M, Kaufman A, Dixon J, Teichberg S, Wallace DC (1995) Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. Neurology 45(2):286\u2013292","journal-title":"Neurology"},{"key":"9673_CR9","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1007\/s100380070004","volume":"45","author":"J Akanuma","year":"2000","unstructured":"Akanuma J, Muraki K, Komaki H, Nonaka I, Goto Y (2000) Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J Hum Genet 45:337\u2013341","journal-title":"J Hum Genet"},{"issue":"1","key":"9673_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10633-014-9473-7","volume":"130","author":"DL McCulloch","year":"2015","unstructured":"McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1\u201312","journal-title":"Doc Ophthalmol"},{"key":"9673_CR11","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1007\/s10633-012-9351-0","volume":"125","author":"N Hori","year":"2012","unstructured":"Hori N, Komori S, Yamada H, Sawada A, Nomura Y, Mochizuki K, Yamamoto T (2012) Assessment of macular function of glaucomatous eyes by multifocal electroretinograms. Doc Ophthalmol 125:235\u2013247","journal-title":"Doc Ophthalmol"},{"key":"9673_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10633-011-9296-8","volume":"124","author":"DC Hood","year":"2012","unstructured":"Hood DC, Bach M, Brigell M, Keating D, Kondo M, Lyons JS, Marmor MF, McCulloch DL, Palmowski-Wolfe AM (2012) International society for clinical electrophysiology of vision ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition). Doc Ophthalmol 124:1\u201313","journal-title":"Doc Ophthalmol"},{"issue":"6","key":"9673_CR13","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1016\/S0161-6420(99)90244-0","volume":"106","author":"PR Smith","year":"1999","unstructured":"Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM (1999) Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. Ophthalmology 106(6):1101\u20131108","journal-title":"Ophthalmology"},{"issue":"9","key":"9673_CR14","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.1016\/S0161-6420(99)90356-1","volume":"106","author":"P Massin","year":"1999","unstructured":"Massin P, Virally-Monod M, Vialettes B, Paques M, Gin H, Porokhov B, Caillat-Zucman S, Froguel P, Paquis-Fluckinger V, Gaudric A, Guillausseau PJ (1999) Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness GEDIAM Group. Ophthalmology 106(9):1821\u20131827","journal-title":"Ophthalmology"},{"issue":"12","key":"9673_CR15","doi-asserted-by":"publisher","first-page":"2684","DOI":"10.1016\/j.ophtha.2013.05.013","volume":"120","author":"P Laat de","year":"2013","unstructured":"de Laat P, Smeitink JA, Janssen MC, Keunen JE, Boon CJ (2013) Mitochondrial retinal dystrophy associated with the m,3243A\u2009>\u2009G mutation. Ophthalmology 120(12):2684\u20132696","journal-title":"Ophthalmology"},{"issue":"7","key":"9673_CR16","doi-asserted-by":"publisher","first-page":"2355","DOI":"10.1167\/iovs.03-1090","volume":"45","author":"C Bellmann","year":"2004","unstructured":"Bellmann C, Neveu MM, Scholl HP, Hogg CR, Rath PP, Jenkins S, Bird AC, Holder GE (2004) Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness. Invest Ophthalmol Vis Sci 45(7):2355\u20132360","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"10","key":"9673_CR17","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1007\/s00417-002-0555-y","volume":"240","author":"T Latvala","year":"2002","unstructured":"Latvala T, Mustonen E, Uusitalo R, Majamaa K (2002) Pigmentary retinopathy in patients with the MELAS mutation 3243A\u2009>\u2009G in mitochondrial DNA. Graefes Arch Clin Exp Ophthalmol 240(10):795\u2013801","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"9673_CR18","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1001\/archopht.1962.00960030023005","volume":"68","author":"D Yonemura","year":"1962","unstructured":"Yonemura D, Aoki T, Tsuzuki K (1962) Electroretinogram in diabetic retinopathy. Arch Ophthalmol 68:19\u201324","journal-title":"Arch Ophthalmol"},{"issue":"9","key":"9673_CR19","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1001\/archopht.1984.01040031057023","volume":"102","author":"GH Bresnick","year":"1984","unstructured":"Bresnick GH, Korth K, Groo A, Palta M (1984) Electroretinographic oscillatory potentials predict progression of diabetic retinopathy: preliminary report. Arch Ophthalmol 102(9):1307\u20131311","journal-title":"Arch Ophthalmol"},{"issue":"7","key":"9673_CR20","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1001\/archopht.1987.01060070065030","volume":"105","author":"GH Bresnick","year":"1987","unstructured":"Bresnick GH, Palta M (1987) Oscillatory potential amplitudes: relation to severity of diabetic retinopathy. Arch Ophthalmol 105(7):929\u2013933","journal-title":"Arch Ophthalmol"},{"issue":"6","key":"9673_CR21","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1002\/ana.410250611","volume":"25","author":"R Sakuta","year":"1989","unstructured":"Sakuta R, Nonaka I (1989) Vascular involvement in mitochondrial myopathy. Ann Neurol 25(6):594\u2013601","journal-title":"Ann Neurol"},{"issue":"11","key":"9673_CR22","doi-asserted-by":"publisher","first-page":"1766","DOI":"10.1212\/01.wnl.0000220197.36849.1e","volume":"66","author":"Y Koga","year":"2006","unstructured":"Koga Y, Akita Y, Junko N, Yatsuga S, Povalko N, Fukiyama R, Ishii M, Matsuishi T (2006) Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology 66(11):1766\u20131769","journal-title":"Neurology"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10633-019-09673-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-019-09673-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-019-09673-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T19:30:50Z","timestamp":1580326250000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10633-019-09673-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,30]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,4]]}},"alternative-id":["9673"],"URL":"https:\/\/doi.org\/10.1007\/s10633-019-09673-y","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,30]]},"assertion":[{"value":"30 October 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 January 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 January 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":"All authors declare that he\/she has no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"All procedures performed in these studies involving human participants were in accordance with the ethical standards of the Institutional and\/or National Research Committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}