{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:23:12Z","timestamp":1789068192466,"version":"build-2803163510"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2018,1,29]],"date-time":"2018-01-29T00:00:00Z","timestamp":1517184000000},"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":["Graefes Arch Clin Exp Ophthalmol"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1007\/s00417-018-3914-z","type":"journal-article","created":{"date-parts":[[2018,1,28]],"date-time":"2018-01-28T18:30:24Z","timestamp":1517164224000},"page":"583-588","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mitochondrial A3243G mutation results in corneal endothelial polymegathism"],"prefix":"10.1007","volume":"256","author":[{"given":"Mathieu F.","family":"Bakhoum","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Pu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia C.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse D.","family":"Sengillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Sanfilippo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelle M.","family":"Morcos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. Bailey","family":"Freund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry D.","family":"Perry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sarraf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,1,29]]},"reference":[{"key":"3914_CR1","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 348:651\u2013653. \n                    https:\/\/doi.org\/10.1038\/348651a0","journal-title":"Nature"},{"key":"3914_CR2","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1038\/ng0892-368","volume":"1","author":"JMW Ouweland van den","year":"1992","unstructured":"van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W et al (1992) Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368\u2013371. \n                    https:\/\/doi.org\/10.1038\/ng0892-368","journal-title":"Nat Genet"},{"key":"3914_CR3","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1001\/archopht.126.3.320","volume":"126","author":"M Michaelides","year":"2008","unstructured":"Michaelides M (2008) Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Arch Ophthalmol 126:320\u2013328. \n                    https:\/\/doi.org\/10.1001\/archopht.126.3.320","journal-title":"Arch Ophthalmol"},{"key":"3914_CR4","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1128\/MCB.12.2.480","volume":"12","author":"MP King","year":"1992","unstructured":"King MP, Koga Y, Davidson M, Schon EA (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 12:480\u2013490. \n                    https:\/\/doi.org\/10.1128\/MCB.12.2.480","journal-title":"Mol Cell Biol"},{"key":"3914_CR5","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1167\/iovs.02-0300","volume":"44","author":"JD Gottsch","year":"2003","unstructured":"Gottsch JD, Bowers AL, Margulies EH et al (2003) Serial analysis of gene expression in the corneal endothelium of Fuchs\u2019 dystrophy. Invest Opthalmol Visual Sci 44:594. \n                    https:\/\/doi.org\/10.1167\/iovs.02-0300","journal-title":"Invest Opthalmol Visual Sci"},{"key":"3914_CR6","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/j.jmoldx.2014.03.005","volume":"16","author":"J-B Yan","year":"2014","unstructured":"Yan J-B, Zhang R, Xiong C et al (2014) Pyrosequencing is an accurate and reliable method for the analysis of heteroplasmy of the A3243G mutation in patients with mitochondrial diabetes. J Mol Diagn 16:431\u2013439. \n                    https:\/\/doi.org\/10.1016\/j.jmoldx.2014.03.005","journal-title":"J Mol Diagn"},{"key":"3914_CR7","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1007\/BF02150095","volume":"218","author":"A Stefansson","year":"1982","unstructured":"Stefansson A, M\u00fcller O, Sundmacher R (1982) Non-contact specular microscopy of the normal corneal endothelium. Graefes Arch Clin Exp Ophthalmol 218:200\u2013205. \n                    https:\/\/doi.org\/10.1007\/BF02150095","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"3914_CR8","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1001\/archopht.1985.01050010072023","volume":"103","author":"M Matsuda","year":"1985","unstructured":"Matsuda M, Yee RW, Edelhauser HF (1985) Comparison of the corneal endothelium in an American and a Japanese population. Arch Ophthalmol 103:68\u201370. \n                    https:\/\/doi.org\/10.1001\/archopht.1985.01050010072023","journal-title":"Arch Ophthalmol"},{"key":"3914_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/ICO.0b013e31815892da","volume":"27","author":"BE McCarey","year":"2008","unstructured":"McCarey BE, Edelhauser HF, Lynn MJ (2008) Review of corneal endothelial specular microscopy for FDA clinical trials of refractive procedures, surgical devices, and new intraocular drugs and solutions. Cornea 27:1\u201316. \n                    https:\/\/doi.org\/10.1097\/ICO.0b013e31815892da","journal-title":"Cornea"},{"key":"3914_CR10","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/0014-4835(88)90021-8","volume":"47","author":"KH Carlson","year":"1988","unstructured":"Carlson KH, Bourne WM, McLaren JW, Brubaker RF (1988) Variations in human corneal endothelial cell morphology and permeability to fluorescein with age. Exp Eye Res 47:27\u201341. \n                    https:\/\/doi.org\/10.1016\/0014-4835(88)90021-8","journal-title":"Exp Eye Res"},{"key":"3914_CR11","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/0002-9394(84)90120-X","volume":"98","author":"RO Schultz","year":"1984","unstructured":"Schultz RO, Matsuda M, Yee RW et al (1984) Corneal endothelial changes in type I and type II diabetes mellitus. Am J Ophthalmol 98:401\u2013410. \n                    https:\/\/doi.org\/10.1016\/0002-9394(84)90120-X","journal-title":"Am J Ophthalmol"},{"key":"3914_CR12","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1097\/ICO.0b013e31823f8e00","volume":"31","author":"RR Sudhir","year":"2012","unstructured":"Sudhir RR, Raman R, Sharma T (2012) Changes in the corneal endothelial cell density and morphology in patients with type 2 diabetes mellitus: a population-based study, Sankara Nethralaya diabetic retinopathy and molecular genetics study (SN-DREAMS, report 23). Cornea 31:1119\u20131122. \n                    https:\/\/doi.org\/10.1097\/ICO.0b013e31823f8e00","journal-title":"Cornea"},{"key":"3914_CR13","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1016\/j.ophtha.2016.04.036","volume":"123","author":"AM Alfawaz","year":"2016","unstructured":"Alfawaz AM, Holland GN, Yu F et al (2016) Corneal endothelium in patients with anterior uveitis. Ophthalmology 123:1637\u20131645. \n                    https:\/\/doi.org\/10.1016\/j.ophtha.2016.04.036","journal-title":"Ophthalmology"},{"key":"3914_CR14","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.1001\/archopht.1993.01090090106028","volume":"111","author":"TS Chang","year":"1993","unstructured":"Chang TS, Johns DR, Walker D et al (1993) Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch Ophthalmol 111:1254\u20131262","journal-title":"Arch Ophthalmol"},{"key":"3914_CR15","doi-asserted-by":"publisher","first-page":"1757","DOI":"10.1016\/S0161-6420(13)31404-3","volume":"100","author":"V Rummelt","year":"1993","unstructured":"Rummelt V, Folberg R, Ionasescu V et al (1993) Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. Ophthalmology 100:1757\u20131766. \n                    https:\/\/doi.org\/10.1016\/S0161-6420(13)31404-3","journal-title":"Ophthalmology"},{"key":"3914_CR16","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1136\/bjo.2006.101055","volume":"91","author":"MH Colyer","year":"2007","unstructured":"Colyer MH, Bower KS, Ward TP et al (2007) Mitochondrial myopathy presenting with segmental corneal oedema and retrocorneal membrane. Br J Ophthalmol 91:696\u2013697. \n                    https:\/\/doi.org\/10.1136\/bjo.2006.101055","journal-title":"Br J Ophthalmol"},{"key":"3914_CR17","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1136\/jmg.35.3.258","volume":"35","author":"RL Albin","year":"1998","unstructured":"Albin RL (1998) Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations. J Med Genet 35:258\u2013259. \n                    https:\/\/doi.org\/10.1136\/jmg.35.3.258","journal-title":"J Med Genet"},{"key":"3914_CR18","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/S0161-6420(86)33744-8","volume":"93","author":"BN Bachynski","year":"1986","unstructured":"Bachynski BN, Flynn JT, Rodrigues MM et al (1986) Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. Ophthalmology 93:391\u2013396. \n                    https:\/\/doi.org\/10.1016\/S0161-6420(86)33744-8","journal-title":"Ophthalmology"},{"key":"3914_CR19","doi-asserted-by":"publisher","first-page":"210???214","DOI":"10.1097\/00003226-198909000-00009","volume":"8","author":"K Ohkoshi","year":"1989","unstructured":"Ohkoshi K, Ishida N, Yamaguchi T, Kanki K (1989) Corneal endothelium in a Case of mitochondrial ENCEPHALOMYOPATHY (Kearns-SAYRE syndrome). Cornea 8:210???214. \n                    https:\/\/doi.org\/10.1097\/00003226-198909000-00009","journal-title":"Cornea"},{"key":"3914_CR20","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1097\/00003226-199405000-00014","volume":"13","author":"TS Chang","year":"1994","unstructured":"Chang TS, Johns DR, Stark WJ et al (1994) Corneal Decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. Cornea 13:269\u2013273. \n                    https:\/\/doi.org\/10.1097\/00003226-199405000-00014","journal-title":"Cornea"},{"key":"3914_CR21","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1034\/j.1600-0420.2003.00120.x","volume":"81","author":"T Zarnowski","year":"2003","unstructured":"Zarnowski T, Jaksch M, Rejdak R, Zagorski Z (2003) Kearns-Sayre syndrome, abnormal corneal endothelium and normal tension glaucoma. Acta Ophthalmol Scand 81:543\u2013545. \n                    https:\/\/doi.org\/10.1034\/j.1600-0420.2003.00120.x","journal-title":"Acta Ophthalmol Scand"},{"key":"3914_CR22","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1007\/BF00400668","volume":"39","author":"JA Maassen","year":"1996","unstructured":"Maassen JA, Kadowaki T (1996) Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 39:375\u2013382. \n                    https:\/\/doi.org\/10.1007\/s001250050456","journal-title":"Diabetologia"},{"key":"3914_CR23","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/j.mito.2006.12.004","volume":"7","author":"N Manwaring","year":"2007","unstructured":"Manwaring N, Jones MM, Wang JJ et al (2007) Population prevalence of the MELAS A3243G mutation. Mitochondrion 7:230\u2013233. \n                    https:\/\/doi.org\/10.1016\/j.mito.2006.12.004","journal-title":"Mitochondrion"}],"container-title":["Graefe's Archive for Clinical and Experimental Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00417-018-3914-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-018-3914-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-018-3914-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T20:36:06Z","timestamp":1548707766000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00417-018-3914-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,29]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["3914"],"URL":"https:\/\/doi.org\/10.1007\/s00417-018-3914-z","relation":{},"ISSN":["0721-832X","1435-702X"],"issn-type":[{"value":"0721-832X","type":"print"},{"value":"1435-702X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,29]]},"assertion":[{"value":"31 October 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2018","order":4,"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":"Jonas Children\u2019s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory are supported by the National Institute of Health [5P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437], National Cancer Institute Core [5P30CA013696], the Research to Prevent Blindness (RPB) Physician-Scientist Award, unrestricted funds from RPB, New York, NY, USA. J.D.S is supported by the RPB medical student fellowship. S.H.T. is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation, the Schneeweiss Stem Cell Fund, New York State [C029572], the Foundation Fighting Blindness New York Regional Research Center Grant [C-NY05-0705-0312], and the Gebroe Family Foundation.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Financial support"}},{"value":"K.B.F. is a consultant for Genentech, Optovue, Optos, Graybug Vision, and Heidelberg Engineering and receives research support from Genentech. All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria, educational grants, participation in speakers\u2019 bureaus, membership, employment, consultancies, stock ownership, or other equity interest, and expert testimony or patent-licensing arrangements) or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.","order":3,"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 and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}