{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:42:18Z","timestamp":1790847738386,"version":"4.1.0"},"reference-count":89,"publisher":"Springer Science and Business Media LLC","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.springer.com\/tdm"},{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1038\/eye.2011.97","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T10:07:44Z","timestamp":1305194864000},"page":"587-595","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":159,"title":["Primary open-angle glaucoma genes"],"prefix":"10.1038","volume":"25","author":[{"given":"J H","family":"Fingert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,5,12]]},"reference":[{"key":"BFeye201197_CR1","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1126\/science.1109557","volume":"308","author":"R Klein","year":"2005","unstructured":"Klein R, Zeiss C, Chew E, Tsai J, Sackler R, Haynes C et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005; 308: 385\u2013389.","journal-title":"Science"},{"key":"BFeye201197_CR2","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1126\/science.1110189","volume":"308","author":"AO Edwards","year":"2005","unstructured":"Edwards AO, Ritter III R, Abel KJ, Manning A, Panhuysen C, Farrer LA . Complement factor H polymorphism and age-related macular degeneration. Science 2005; 308: 421\u2013424.","journal-title":"Science"},{"key":"BFeye201197_CR3","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1126\/science.1110359","volume":"308","author":"JL Haines","year":"2005","unstructured":"Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005; 308: 419\u2013421.","journal-title":"Science"},{"key":"BFeye201197_CR4","doi-asserted-by":"publisher","first-page":"7227","DOI":"10.1073\/pnas.0501536102","volume":"102","author":"G Hageman","year":"2005","unstructured":"Hageman G, Anderson D, Johnson L, Hancox L, Taiber A, Hardisty L et al. A common haplotype in the complement regulatory gene factor H (HF1\/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 2005; 102: 7227\u20137232.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye201197_CR5","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1056\/NEJMoa1007064","volume":"363","author":"KH Baratz","year":"2010","unstructured":"Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 2010; 363: 1016\u20131024.","journal-title":"N Engl J Med"},{"key":"BFeye201197_CR6","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1126\/science.1146554","volume":"317","author":"G Thorleifsson","year":"2007","unstructured":"Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397\u20131400.","journal-title":"Science"},{"key":"BFeye201197_CR7","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1126\/science.275.5300.668","volume":"275","author":"EM Stone","year":"1997","unstructured":"Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL et al. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275: 668\u2013670.","journal-title":"Science"},{"key":"BFeye201197_CR8","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1038\/ng.661","volume":"42","author":"G Thorleifsson","year":"2010","unstructured":"Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 2010; 42: 906\u2013909.","journal-title":"Nat Genet"},{"key":"BFeye201197_CR9","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1126\/science.1066901","volume":"295","author":"T Rezaie","year":"2002","unstructured":"Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295: 1077\u20131079.","journal-title":"Science"},{"key":"BFeye201197_CR10","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1056\/NEJM199804093381503","volume":"338","author":"WL Alward","year":"1998","unstructured":"Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D et al. Clinical features associated with mutations in the chromosome 1 open- angle glaucoma gene (GLC1A). N Engl J Med 1998; 338: 1022\u20131027.","journal-title":"N Engl J Med"},{"key":"BFeye201197_CR11","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1001\/archopht.1991.01080010094039","volume":"109","author":"EL Berson","year":"1991","unstructured":"Berson EL, Rosner B, Sandberg MA, Dryja TP . Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol 1991; 109: 92\u2013101.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR12","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1136\/jmg.37.1.62","volume":"37","author":"AR Webster","year":"2000","unstructured":"Webster AR, Maher ER, Bird AC, Moore AT . Risk of multisystem disease in isolated ocular angioma (haemangioblastoma). J Med Genet 2000; 37: 62\u201363.","journal-title":"J Med Genet"},{"key":"BFeye201197_CR13","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1038\/418222a","volume":"418","author":"JA Doudna","year":"2002","unstructured":"Doudna JA, Cech TR . The chemical repertoire of natural ribozymes. Nature 2002; 418: 222\u2013228.","journal-title":"Nature"},{"key":"BFeye201197_CR14","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/418252a","volume":"418","author":"BA Sullenger","year":"2002","unstructured":"Sullenger BA, Gilboa E . Emerging clinical applications of RNA. Nature 2002; 418: 252\u2013258.","journal-title":"Nature"},{"key":"BFeye201197_CR15","volume-title":"Abhaundlungen zus dem Gebiete der Augenheilkunde","author":"TWG Benedict","year":"1842","unstructured":"Benedict TWG . Abhaundlungen zus dem Gebiete der Augenheilkunde. Breslau: L Freunde, 1842."},{"key":"BFeye201197_CR16","unstructured":"Arlt CF . Die krankeiten des auges f\u00fcr praktische \u00c4rzte. Vol. 1\/2. Credner & Kleinbub: Prague, 1853."},{"key":"BFeye201197_CR17","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1111\/j.1755-3768.1987.tb07050.x","volume":"65","author":"JM Teikari","year":"1987","unstructured":"Teikari JM, Airaksinen PJ, Kaprio J, Koskenvuo M . Primary open-angle glaucoma in 2 monozygotic twin pairs. Acta Ophthalmol (Copenh) 1987; 65: 607\u2013611.","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"BFeye201197_CR18","first-page":"38","volume":"28","author":"H Kurten","year":"1934","unstructured":"Kurten H, Halle S . Ein 81 jahriges, eineiiges zwillings-bruderpaar. Arch Rassen Gessell Biol 1934; 28: 38\u201349.","journal-title":"Arch Rassen Gessell Biol"},{"key":"BFeye201197_CR19","volume-title":"Clinical and genetic studies on the primary glaucoma diseases","author":"KE Westerland","year":"1947","unstructured":"Westerland KE . Clinical and genetic studies on the primary glaucoma diseases. Busck: Copenhagen, 1947."},{"key":"BFeye201197_CR20","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1159\/000299699","volume":"98","author":"I Bir\u00f3","year":"1939","unstructured":"Bir\u00f3 I . Notes on the heredity of glaucoma. Ophthalmologica 1939; 98: 43\u201350.","journal-title":"Ophthalmologica"},{"key":"BFeye201197_CR21","first-page":"951","volume":"39","author":"SW John","year":"1998","unstructured":"John SW, Smith RS, Savinova OV, Hawes NL, Chang B, Turnbull D et al. Essential iris atrophy, pigment dispersion, and glaucoma in DBA\/2J mice. Invest Ophthalmol Vis Sci 1998; 39: 951\u2013962.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR22","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1038\/ng794","volume":"30","author":"MG Anderson","year":"2002","unstructured":"Anderson MG, Smith RS, Hawes NL, Zabaleta A, Chang B, Wiggs JL et al. Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA\/2J mice. Nat Genet 2002; 30: 81\u201385.","journal-title":"Nat Genet"},{"key":"BFeye201197_CR23","unstructured":"McLellan GJ, Betts DM, Sigle K, Grozdanic SD . Congenital glaucoma in the simese cat\u2014a novel spontaneous animal model for glaucoma research. Invest Ophthalmol Vis Sci 2005; 46, E-Abstract 134."},{"issue":"4 Part 1","key":"BFeye201197_CR24","first-page":"OP636","volume":"81","author":"KN Gelatt","year":"1976","unstructured":"Gelatt KN, Peiffer Jr RL, Gwin RM, Sauk Jr JJ . Glaucoma in the beagle. Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol 1976; 81 (4 Part 1): OP636\u2013OP644.","journal-title":"Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol"},{"key":"BFeye201197_CR25","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1167\/iovs.09-4081","volume":"51","author":"SD Grozdanic","year":"2010","unstructured":"Grozdanic SD, Kecova H, Harper MM, Nilaweera W, Kuehn MH, Kardon RH . Functional and structural changes in a canine model of hereditary primary angle-closure glaucoma. Invest Ophthalmol Vis Sci 2010; 51: 255\u2013263.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR26","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1093\/hmg\/8.5.899","volume":"8","author":"JH Fingert","year":"1999","unstructured":"Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8: 899\u2013905.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR27","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1038\/ng0593-47","volume":"4","author":"VC Sheffield","year":"1993","unstructured":"Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4: 47\u201350.","journal-title":"Nat Genet"},{"key":"BFeye201197_CR28","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1016\/S0039-6257(02)00353-3","volume":"47","author":"JH Fingert","year":"2002","unstructured":"Fingert JH, Stone EM, Sheffield VC, Alward WL . Myocilin glaucoma. Surv Ophthalmol 2002; 47: 547\u2013561.","journal-title":"Surv Ophthalmol"},{"key":"BFeye201197_CR29","doi-asserted-by":"publisher","first-page":"R91","DOI":"10.1093\/hmg\/ddh074","volume":"13","author":"G Gong","year":"2004","unstructured":"Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR . Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13 Spec No 1: R91\u2013R102.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR30","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.1086\/302098","volume":"63","author":"JL Wiggs","year":"1998","unstructured":"Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J et al. Prevalence of mutations in TIGR\/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998; 63: 1549\u20131552.","journal-title":"Am J Hum Genet"},{"key":"BFeye201197_CR31","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/S0002-9394(00)00536-5","volume":"130","author":"S Shimizu","year":"2000","unstructured":"Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000; 130: 165\u2013177.","journal-title":"Am J Ophthalmol"},{"key":"BFeye201197_CR32","first-page":"1627","volume":"13","author":"YC Yen","year":"2007","unstructured":"Yen YC, Yang JJ, Chou MC, Li SY . Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. Mol Vis 2007; 13: 1627\u20131634.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR33","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1016\/S0161-6420(96)30611-8","volume":"103","author":"AT Johnson","year":"1996","unstructured":"Johnson AT, Richards JE, Boehnke M, Stringham HM, Herman SB, Wong DJ et al. Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalmology 1996; 103: 808\u2013814.","journal-title":"Ophthalmology"},{"key":"BFeye201197_CR34","first-page":"62","volume":"54","author":"JE Richards","year":"1994","unstructured":"Richards JE, Lichter PR, Boehnke M, Uro JLA, Torrez D, Wong D et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet 1994; 54: 62\u201370.","journal-title":"Am J Hum Genet"},{"key":"BFeye201197_CR35","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1016\/S0002-9394(02)01754-3","volume":"134","author":"TA Graul","year":"2002","unstructured":"Graul TA, Kwon YH, Zimmerman MB, Kim CS, Sheffield VC, Stone EM et al. A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. Am J Ophthalmol 2002; 134: 884\u2013890.","journal-title":"Am J Ophthalmol"},{"key":"BFeye201197_CR36","doi-asserted-by":"publisher","first-page":"1607","DOI":"10.1016\/S0161-6420(01)00654-6","volume":"108","author":"JE Craig","year":"2001","unstructured":"Craig JE, Baird PN, Healey DL, McNaught AI, McCartney PJ, Rait JL et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology 2001; 108: 1607\u20131620.","journal-title":"Ophthalmology"},{"key":"BFeye201197_CR37","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1093\/hmg\/10.2.117","volume":"10","author":"N Jacobson","year":"2001","unstructured":"Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH et al. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001; 10: 117\u2013125.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR38","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1016\/j.bbrc.2003.10.162","volume":"312","author":"MK Joe","year":"2003","unstructured":"Joe MK, Sohn S, Hur W, Moon Y, Choi YR, Kee C . Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 2003; 312: 592\u2013600.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFeye201197_CR39","doi-asserted-by":"publisher","first-page":"3560","DOI":"10.1167\/iovs.04-0300","volume":"45","author":"S Gobeil","year":"2004","unstructured":"Gobeil S, Rodrigue MA, Moisan S, Nguyen TD, Polansky JR, Morissette J et al. Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants. Invest Ophthalmol Vis Sci 2004; 45: 3560\u20133567.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR40","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1093\/hmg\/ddh128","volume":"13","author":"Y Liu","year":"2004","unstructured":"Liu Y, Vollrath D . Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13: 1193\u20131204.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR41","first-page":"219","volume-title":"Ophthalmology Research: Mechanisms of the Glaucomas","author":"ER Tamm","year":"2009","unstructured":"Tamm ER . The Functional Role of Myocilin in Glaucoma. In: Tombran-Tink J, Barnstable CJ, Shields MB (eds). Ophthalmology Research: Mechanisms of the Glaucomas. Humana Press: Totowa, 2009 pp 219\u2013231."},{"key":"BFeye201197_CR42","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1056\/NEJMra0804630","volume":"360","author":"YH Kwon","year":"2009","unstructured":"Kwon YH, Fingert JH, Kuehn MH, Alward WL . Primary open-angle glaucoma. N Engl J Med 2009; 360: 1113\u20131124.","journal-title":"N Engl J Med"},{"key":"BFeye201197_CR43","doi-asserted-by":"publisher","first-page":"11903","DOI":"10.1523\/JNEUROSCI.3020-06.2006","volume":"26","author":"V Senatorov","year":"2006","unstructured":"Senatorov V, Malyukova I, Fariss R, Wawrousek EF, Swaminathan S, Sharan SK et al. Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice. J Neurosci 2006; 26: 11903\u201311914.","journal-title":"J Neurosci"},{"key":"BFeye201197_CR44","doi-asserted-by":"publisher","first-page":"1932","DOI":"10.1167\/iovs.07-1339","volume":"49","author":"Y Zhou","year":"2008","unstructured":"Zhou Y, Grinchuk O, Tomarev SI . Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma. Invest Ophthalmol Vis Sci 2008; 49: 1932\u20131939.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR45","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.exer.2008.06.006","volume":"87","author":"W Paper","year":"2008","unstructured":"Paper W, Kroeber M, Heersink S, Stephan DA, Fuchshofer R, Russell P et al. Elevated amounts of myocilin in the aqueous humor of transgenic mice cause significant changes in ocular gene expression. Exp Eye Res 2008; 87: 257\u2013267.","journal-title":"Exp Eye Res"},{"key":"BFeye201197_CR46","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1086\/301767","volume":"62","author":"M Sarfarazi","year":"1998","unstructured":"Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC et al. Localization of the fourth locus (GLC1E) for adult-onset primary open- angle glaucoma to the 10p15-p14 region. Am J Hum Genet 1998; 62: 641\u2013652.","journal-title":"Am J Hum Genet"},{"key":"BFeye201197_CR47","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1016\/S0002-9394(03)00577-4","volume":"136","author":"WL Alward","year":"2003","unstructured":"Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT et al. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol 2003; 136: 904\u2013910.","journal-title":"Am J Ophthalmol"},{"key":"BFeye201197_CR48","doi-asserted-by":"publisher","first-page":"e101","DOI":"10.1136\/jmg.40.8.e101","volume":"40","author":"T Aung","year":"2003","unstructured":"Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ et al. Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. J Med Genet 2003; 40: e101.","journal-title":"J Med Genet"},{"key":"BFeye201197_CR49","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1038\/jhg.2010.91","volume":"55","author":"KK McDonald","year":"2010","unstructured":"McDonald KK, Abramson K, Beltran MA, Ramirez MG, Alvarez M, Ventura A et al. Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. J Hum Genet 2010; 55: 697\u2013700.","journal-title":"J Hum Genet"},{"key":"BFeye201197_CR50","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1097\/00061198-200408000-00007","volume":"13","author":"N Fuse","year":"2004","unstructured":"Fuse N, Takahashi K, Akiyama H, Nakazawa T, Seimiya M, Kuwahara S et al. Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. J Glaucoma 2004; 13: 299\u2013303.","journal-title":"J Glaucoma"},{"key":"BFeye201197_CR51","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1080\/13816810490514298","volume":"25","author":"T Umeda","year":"2004","unstructured":"Umeda T, Matsuo T, Nagayama M, Tamura N, Tanabe Y, Ohtsuki H . Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients. Ophthalmic Genet 2004; 25: 91\u201399.","journal-title":"Ophthalmic Genet"},{"key":"BFeye201197_CR52","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.a.20439","volume":"125A","author":"Y Toda","year":"2004","unstructured":"Toda Y, Tang S, Kashiwagi K, Mabuchi F, Iijima H, Tsukahara S et al. Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma. Am J Med Genet A 2004; 125A: 1\u20134.","journal-title":"Am J Med Genet A"},{"key":"BFeye201197_CR53","first-page":"284","volume":"11","author":"N Weisschuh","year":"2005","unstructured":"Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E . Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis 2005; 11: 284\u2013287.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR54","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1001\/archopht.121.8.1181","volume":"121","author":"JL Wiggs","year":"2003","unstructured":"Wiggs JL, Auguste J, Allingham RR, Flor JD, Pericak-Vance MA, Rogers K et al. Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmol 2003; 121: 1181\u20131183.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR55","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1080\/13816810490967953","volume":"26","author":"M Jansson","year":"2005","unstructured":"Jansson M, Wadelius C, Rezaie T, Sarfarazi M . Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases. Ophthalmic Genet 2005; 26: 85\u201389.","journal-title":"Ophthalmic Genet"},{"key":"BFeye201197_CR56","first-page":"792","volume":"11","author":"A Mukhopadhyay","year":"2005","unstructured":"Mukhopadhyay A, Komatireddy S, Acharya M, Bhattacharjee A, Mandal AK, Thakur SK et al. Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma. Mol Vis 2005; 11: 792\u2013797.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR57","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1080\/13816810802502970","volume":"30","author":"C Caixeta-Umbelino","year":"2009","unstructured":"Caixeta-Umbelino C, de Vasconcellos JP, Costa VP, Kasahara N, Della Paolera M, de Almeida GV et al. Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. Ophthalmic Genet 2009; 30: 13\u201318.","journal-title":"Ophthalmic Genet"},{"key":"BFeye201197_CR58","doi-asserted-by":"publisher","first-page":"16147","DOI":"10.1074\/jbc.M601467200","volume":"281","author":"N De Marco","year":"2006","unstructured":"De Marco N, Buono M, Troise F, Diez-Roux G . Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. J Biol Chem 2006; 281: 16147\u201316156.","journal-title":"J Biol Chem"},{"key":"BFeye201197_CR59","doi-asserted-by":"publisher","first-page":"2606","DOI":"10.1093\/hmg\/ddq146","volume":"19","author":"ZL Chi","year":"2010","unstructured":"Chi ZL, Akahori M, Obazawa M, Minami M, Noda T, Nakaya N et al. Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Hum Mol Genet 2010; 19: 2606\u20132615.","journal-title":"Hum Mol Genet"},{"issue":"12","key":"BFeye201197_CR60","doi-asserted-by":"publisher","first-page":"2482","DOI":"10.1093\/hmg\/ddr123","volume":"20","author":"John H. Fingert","year":"2011","unstructured":"Fingert JH, Robin AL, Stone JL, Roos B, Davis LK, Scheetz TA et al. Copy number variations on chromosom 12q14 patients with normal tension glaucoma. Hum Mol Genet 2011, e-pub ahead of print 29 March 2011; doi:10.1093\/hmg\/ddr123.","journal-title":"Human Molecular Genetics"},{"key":"BFeye201197_CR61","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1016\/j.febslet.2008.02.047","volume":"582","author":"S Morton","year":"2008","unstructured":"Morton S, Hesson L, Peggie M, Cohen P . Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. FEBS Lett 2008; 582: 997\u20131002.","journal-title":"FEBS Lett"},{"key":"BFeye201197_CR62","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1093\/hmg\/ddi068","volume":"14","author":"S Monemi","year":"2005","unstructured":"Monemi S, Spaeth G, Dasilva A, Popinchalk S, Ilitchev E, Liebmann J et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14: 725\u2013733.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR63","doi-asserted-by":"publisher","first-page":"2542","DOI":"10.1167\/iovs.05-1476","volume":"47","author":"MA Hauser","year":"2006","unstructured":"Hauser MA, Allingham RR, Linkroum K, Wang J, LaRocque-Abramson K, Figueiredo D et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006; 47: 2542\u20132546.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR64","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1016\/j.ajo.2006.02.041","volume":"142","author":"AW Hewitt","year":"2006","unstructured":"Hewitt AW, Dimasi DP, Mackey DA, Craig JE . A glaucoma case-control study of the WDR36 Gene D658G sequence variant. Am J Ophthalmol 2006; 142: 324\u2013325.","journal-title":"Am J Ophthalmol"},{"key":"BFeye201197_CR65","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1001\/archopht.125.3.434-b","volume":"125","author":"JH Fingert","year":"2007","unstructured":"Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA et al. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol 2007; 125: 434\u2013436.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR66","first-page":"85","volume":"12","author":"CP Pang","year":"2006","unstructured":"Pang CP, Fan BJ, Canlas O, Wang DY, Dubois S, Tam PO et al. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q. Mol Vis 2006; 12: 85\u201392.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR67","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1001\/archopht.124.9.1328","volume":"124","author":"PL Kramer","year":"2006","unstructured":"Kramer PL, Samples JR, Monemi S, Sykes R, Sarfarazi M, Wirtz MK . The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region. Arch Ophthalmol 2006; 124: 1328\u20131331.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR68","first-page":"1912","volume":"13","author":"A Miyazawa","year":"2007","unstructured":"Miyazawa A, Fuse N, Mengkegale M, Ryu M, Seimiya M, Wada Y et al. Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. Mol Vis 2007; 13: 1912\u20131919.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR69","first-page":"646","volume":"15","author":"BJ Fan","year":"2009","unstructured":"Fan BJ, Wang DY, Cheng CY, Ko WC, Lam SC, Pang CP . Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma. Mol Vis 2009; 15: 646\u2013653.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR70","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1093\/hmg\/ddp027","volume":"18","author":"TK Footz","year":"2009","unstructured":"Footz TK, Johnson JL, Dubois S, Boivin N, Raymond V, Walter MA . Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. Hum Mol Genet 2009; 18: 1276\u20131287.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR71","doi-asserted-by":"publisher","first-page":"3806","DOI":"10.1093\/hmg\/ddq299","volume":"19","author":"ZL Chi","year":"2010","unstructured":"Chi ZL, Yasumoto F, Sergeev Y, Minami M, Obazawa M, Kimura I et al. Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Hum Mol Genet 2010; 19: 3806\u20133815.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR72","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1016\/j.ophtha.2009.12.001","volume":"117","author":"A Meguro","year":"2010","unstructured":"Meguro A, Inoko H, Ota M, Mizuki N, Bahram S . Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology 2010; 117: 1331\u20131338 e1335.","journal-title":"Ophthalmology"},{"key":"BFeye201197_CR73","first-page":"430","volume":"17","author":"MH Kuehn","year":"2011","unstructured":"Kuehn MH, Wang K, Roos B, Stone EM, Kwon YH, Alward WLM et al. Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol Vis 2011; 17: 430\u2013435.","journal-title":"Mol Vis"},{"key":"BFeye201197_CR74","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/nrm2122","volume":"8","author":"RG Parton","year":"2007","unstructured":"Parton RG, Simons K . The multiple faces of caveolae. Nat Rev Mol Cell Biol 2007; 8: 185\u2013194.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"BFeye201197_CR75","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/j.exer.2008.11.003","volume":"88","author":"RR Allingham","year":"2009","unstructured":"Allingham RR, Liu Y, Rhee DJ . The genetics of primary open-angle glaucoma: a review. Exp Eye Res 2009; 88: 837\u2013844.","journal-title":"Exp Eye Res"},{"key":"BFeye201197_CR76","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1755-3768.1978.tb00472.x","volume":"56","author":"PH Alsbirk","year":"1978","unstructured":"Alsbirk PH . Corneal thickness. II. Environmental and genetic factors. Acta Ophthalmol (Copenh) 1978; 56: 105\u2013113.","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"BFeye201197_CR77","doi-asserted-by":"publisher","first-page":"3718","DOI":"10.1167\/iovs.04-1497","volume":"46","author":"T Toh","year":"2005","unstructured":"Toh T, Liew SH, MacKinnon JR, Hewitt AW, Poulsen JL, Spector TD et al. Central corneal thickness is highly heritable: the twin eye studies. Invest Ophthalmol Vis Sci 2005; 46: 3718\u20133722.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR78","first-page":"5","volume":"78","author":"MF Armaly","year":"1967","unstructured":"Armaly MF . Genetic determination of cup\/disc ratio of the optic nerve. Arch Ophthalmol 1967; 78: 5\u201343.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR79","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1001\/archopht.1975.01010020670002","volume":"93","author":"TJ Schwartz","year":"1975","unstructured":"Schwartz TJ, Reuling FH, Feinleib M . Size of the physiologic cup of the optic nerve head: heredity and environmental factors. Arch Ophthalmol 1975; 93: 776\u2013780.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR80","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1167\/iovs.03-0516","volume":"45","author":"BE Klein","year":"2004","unstructured":"Klein BE, Klein R, Lee KE . Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci 2004; 45: 59\u201362.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR81","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1016\/j.ophtha.2005.03.006","volume":"112","author":"TC Chang","year":"2005","unstructured":"Chang TC, Congdon NG, Wojciechowski R, Munoz B, Gilbert D, Chen P et al. Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population. Ophthalmology 2005; 112: 1186\u20131191.","journal-title":"Ophthalmology"},{"key":"BFeye201197_CR82","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1001\/archopht.1967.00980030189011","volume":"78","author":"MF Armaly","year":"1967","unstructured":"Armaly MF . The genetic determination of ocular pressure in the normal eye. Arch Ophthalmol 1967; 78: 187\u2013192.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR83","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1001\/archopht.1970.00990040732006","volume":"84","author":"RZ Levene","year":"1970","unstructured":"Levene RZ, Workman PL, Broder SW, Hirschhorn K . Heritability of ocular pressure in normal and suspect ranges. Arch Ophthalmol 1970; 84: 730\u2013734.","journal-title":"Arch Ophthalmol"},{"key":"BFeye201197_CR84","doi-asserted-by":"publisher","first-page":"3669","DOI":"10.1167\/iovs.06-1519","volume":"48","author":"LM van Koolwijk","year":"2007","unstructured":"van Koolwijk LM, Despriet DD, van Duijn CM, Pardo Cortes LM, Vingerling JR, Aulchenko YS et al. Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest Ophthalmol Vis Sci 2007; 48: 3669\u20133676.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye201197_CR85","doi-asserted-by":"publisher","first-page":"e1000947","DOI":"10.1371\/journal.pgen.1000947","volume":"6","author":"Y Lu","year":"2010","unstructured":"Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T et al. Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010; 6: e1000947.","journal-title":"PLoS Genet"},{"key":"BFeye201197_CR86","doi-asserted-by":"publisher","first-page":"4304","DOI":"10.1093\/hmg\/ddq349","volume":"19","author":"V Vitart","year":"2010","unstructured":"Vitart V, Bencic G, Hayward C, Skunca Herman J, Huffman J, Campbell S et al. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 2010; 19: 4304\u20134311.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR87","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1093\/hmg\/ddq511","volume":"20","author":"EN Vithana","year":"2011","unstructured":"Vithana EN, Aung T, Khor CC, Cornes BK, Tay WT, Sim X et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 2011; 20: 649\u2013658.","journal-title":"Hum Mol Genet"},{"key":"BFeye201197_CR88","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1016\/j.ajhg.2008.04.001","volume":"82","author":"A Abu","year":"2008","unstructured":"Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H . Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 2008; 82: 1217\u20131222.","journal-title":"Am J Hum Genet"},{"key":"BFeye201197_CR89","doi-asserted-by":"publisher","first-page":"8427","DOI":"10.1128\/MCB.01127-06","volume":"26","author":"DB Gould","year":"2006","unstructured":"Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW . Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol 2006; 26: 8427\u20138436.","journal-title":"Mol Cell Biol"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/eye201197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/eye201197","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/eye201197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T06:12:37Z","timestamp":1650348757000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye201197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":89,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["BFeye201197"],"URL":"https:\/\/doi.org\/10.1038\/eye.2011.97","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5]]},"assertion":[{"value":"14 March 2011","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2011","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2011","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The author declares no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}