{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:27:08Z","timestamp":1793039228302,"version":"4.5.0"},"reference-count":92,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>\n                    Normal tension glaucoma (NTG) is a complex optic neuropathy characterized by progressive retinal ganglion cell death and glaucomatous visual field loss, despite normal intraocular pressure (IOP). This condition poses a unique clinical challenge due to the absence of elevated IOP, a major risk factor in typical glaucoma. Recent research indicates that up to 21% of NTG patients have a family history of glaucoma, suggesting a genetic predisposition. In this comprehensive review using PubMed studies from January 1990 to December 2023, our focus delves into the genetic basis of autosomal dominant NTG, the only known form of inheritance for glaucoma. Specifically exploring optineurin (\n                    <jats:italic toggle=\"yes\">OPTN<\/jats:italic>\n                    ), TANK binding kinase 1 (\n                    <jats:italic toggle=\"yes\">TBK1<\/jats:italic>\n                    ), methyltransferase-like 23 (\n                    <jats:italic toggle=\"yes\">METTL23<\/jats:italic>\n                    ), and myocilin (\n                    <jats:italic toggle=\"yes\">MYOC<\/jats:italic>\n                    ) mutations, we summarize their clinical manifestations, mutant protein behaviors, relevant animal models, and potential therapeutic pathways. This exploration aims to illuminate the intricate pathogenesis of NTG, unraveling the contribution of these genetic components to its complex development.\n                  <\/jats:p>","DOI":"10.4103\/ijo.ijo_3204_23","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T02:00:09Z","timestamp":1708653609000},"page":"S335-S344","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":11,"title":["Molecular genetics of inherited normal tension glaucoma"],"prefix":"10.4103","volume":"72","author":[{"given":"Yang","family":"Pan","sequence":"first","affiliation":[{"name":"National Institute of Sensory Organs, NHO Tokyo Medical Center, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Iwata","sequence":"additional","affiliation":[{"name":"National Institute of Sensory Organs, NHO Tokyo Medical Center, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"key":"R1-20260504","doi-asserted-by":"crossref","first-page":"e163670","DOI":"10.1172\/JCI163670","article-title":"Epigenetics in glaucoma: A link between histone methylation and neurodegeneration","volume":"132","author":"Liu","year":"2022","journal-title":"J Clin Invest"},{"key":"R2-20260504","doi-asserted-by":"crossref","first-page":"e153589","DOI":"10.1172\/JCI153589","article-title":"METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma","volume":"132","author":"Pan","year":"2022","journal-title":"J Clin Invest"},{"key":"R3-20260504","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. The Baltimore Eye Survey","volume":"109","author":"Sommer","year":"1991","journal-title":"Arch Ophthalmol"},{"key":"R4-20260504","doi-asserted-by":"crossref","first-page":"250","DOI":"10.4103\/tjo.tjo_30_20","article-title":"Normal tension glaucoma in Asia: Epidemiology, pathogenesis, diagnosis, and management","volume":"10","author":"Chen","year":"2020","journal-title":"Taiwan J Ophthalmol"},{"key":"R5-20260504","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1167\/iovs.09-3806","article-title":"Visual field progression differences between normal-tension and exfoliative high-tension glaucoma","volume":"51","author":"Ahrlich","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R6-20260504","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0161-6420(98)92665-3","article-title":"Prevalence of glaucoma and intraocular pressure distribution in a defined population. The Egna-Neumarkt Study","volume":"105","author":"Bonomi","year":"1998","journal-title":"Ophthalmology"},{"key":"R7-20260504","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1016\/S0161-6420(94)31090-6","article-title":"The prevalence of primary open-angle glaucoma in a population-based study in The Netherlands. The Rotterdam study","volume":"101","author":"Dielemans","year":"1994","journal-title":"Ophthalmology"},{"key":"R8-20260504","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1016\/S0161-6420(92)31774-9","article-title":"Prevalence of glaucoma. The Beaver Dam eye study","volume":"99","author":"Klein","year":"1992","journal-title":"Ophthalmology"},{"key":"R9-20260504","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.survophthal.2013.09.003","article-title":"Population-based glaucoma prevalence studies in Asians","volume":"59","author":"Cho","year":"2014","journal-title":"Surv Ophthalmol"},{"key":"R10-20260504","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/j.ophtha.2010.10.024","article-title":"Differences in rates of glaucoma among Asian Americans and other racial groups, and among various Asian ethnic groups","volume":"118","author":"Stein","year":"2011","journal-title":"Ophthalmology"},{"key":"R11-20260504","doi-asserted-by":"crossref","first-page":"R21","DOI":"10.1093\/hmg\/ddx184","article-title":"Genetics of glaucoma","volume":"26","author":"Wiggs","year":"2017","journal-title":"Hum Mol Genet"},{"key":"R12-20260504","first-page":"563","article-title":"Normal-tension glaucoma: Pathogenesis and genetics","volume":"17","author":"Trivli","year":"2019","journal-title":"Exp Ther Med"},{"key":"R13-20260504","doi-asserted-by":"crossref","first-page":"3064","DOI":"10.1172\/JCI43085","article-title":"Glaucoma: Genes, phenotypes, and new directions for therapy","volume":"120","author":"Fan","year":"2010","journal-title":"J Clin Invest"},{"key":"R14-20260504","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/s41467-020-20851-4","article-title":"Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries","volume":"12","author":"Gharahkhani","year":"2021","journal-title":"Nat Commun"},{"key":"R15-20260504","doi-asserted-by":"crossref","first-page":"101191","DOI":"10.1016\/j.preteyeres.2023.101191","article-title":"Familial normal tension glaucoma genetics","volume":"96","author":"Fox","year":"2023","journal-title":"Prog Retin Eye Res"},{"key":"R16-20260504","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.preteyeres.2016.08.002","article-title":"Significance of optineurin mutations in glaucoma and other diseases","volume":"55","author":"Minegishi","year":"2016","journal-title":"Prog Retin Eye Res"},{"key":"R17-20260504","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1086\/301767","article-title":"Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region","volume":"62","author":"Sarfarazi","year":"1998","journal-title":"Am J Hum Genet"},{"key":"R18-20260504","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1126\/science.1066901","article-title":"Adult-onset primary open-angle glaucoma caused by mutations in optineurin","volume":"295","author":"Rezaie","year":"2002","journal-title":"Science"},{"key":"R19-20260504","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1097\/01.ijg.0000212255.17950.42","article-title":"Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States","volume":"15","author":"Hauser","year":"2006","journal-title":"J Glaucoma"},{"key":"R20-20260504","doi-asserted-by":"crossref","first-page":"e101","DOI":"10.1136\/jmg.40.8.e101","article-title":"Prevalence of optineurin sequence variants in adult primary open angle glaucoma: Implications for diagnostic testing","volume":"40","author":"Aung","year":"2003","journal-title":"J Med Genet"},{"key":"R21-20260504","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/S0002-9394(03)00577-4","article-title":"Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma","volume":"136","author":"Alward","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"R22-20260504","doi-asserted-by":"crossref","first-page":"4359","DOI":"10.1167\/iovs.03-1403","article-title":"Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma","volume":"45","author":"Funayama","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R23-20260504","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1007\/s00439-003-0964-y","article-title":"The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene","volume":"113","author":"Tang","year":"2003","journal-title":"Hum Genet"},{"key":"R24-20260504","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.20439","article-title":"Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma","volume":"125A","author":"Toda","year":"2004","journal-title":"Am J Med Genet A"},{"key":"R25-20260504","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1097\/00061198-200408000-00007","article-title":"Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population","volume":"13","author":"Fuse","year":"2004","journal-title":"J Glaucoma"},{"key":"R26-20260504","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.3389\/fimmu.2018.01017","article-title":"Dysfunction of optineurin in amyotrophic lateral sclerosis and glaucoma","volume":"9","author":"Toth","year":"2018","journal-title":"Front Immunol"},{"key":"R27-20260504","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1212\/WNL.0000000000002334","article-title":"OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes","volume":"86","author":"Goldstein","year":"2016","journal-title":"Neurology"},{"key":"R28-20260504","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1167\/iovs.04-1133","article-title":"Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene","volume":"46","author":"Aung","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R29-20260504","first-page":"151","article-title":"Variation in optineurin (OPTN) allele frequencies between and within populations","volume":"13","author":"Ayala-Lugo","year":"2007","journal-title":"Mol Vis"},{"key":"R30-20260504","doi-asserted-by":"crossref","first-page":"3559","DOI":"10.1093\/hmg\/ddt210","article-title":"Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma","volume":"22","author":"Minegishi","year":"2013","journal-title":"Hum Mol Genet"},{"key":"R31-20260504","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1080\/15548627.2021.1908722","article-title":"Emerging views of OPTN (optineurin) function in the autophagic process associated with disease","volume":"18","author":"Qiu","year":"2022","journal-title":"Autophagy"},{"key":"R32-20260504","doi-asserted-by":"crossref","first-page":"4039","DOI":"10.1073\/pnas.1523926113","article-title":"Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria","volume":"113","author":"Richter","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R33-20260504","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.1205405","article-title":"Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth","volume":"333","author":"Wild","year":"2011","journal-title":"Science"},{"key":"R34-20260504","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1080\/15548627.2016.1212788","article-title":"Spatiotemporal dynamics of autophagy receptors in selective mitophagy","volume":"12","author":"Moore","year":"2016","journal-title":"Autophagy"},{"key":"R35-20260504","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1242\/jcs.114926","article-title":"Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates","volume":"126","author":"Korac","year":"2013","journal-title":"J Cell Sci"},{"key":"R36-20260504","doi-asserted-by":"crossref","first-page":"3830","DOI":"10.1093\/hmg\/ddv126","article-title":"Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis","volume":"24","author":"Sundaramoorthy","year":"2015","journal-title":"Hum Mol Genet"},{"key":"R37-20260504","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1083\/jcb.200501162","article-title":"Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis","volume":"169","author":"Sahlender","year":"2005","journal-title":"J Cell Biol"},{"key":"R38-20260504","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/j.exer.2011.08.011","article-title":"Depletion of optineurin in RGC-5 cells derived from retinal neurons causes apoptosis and reduces the secretion of neurotrophins","volume":"93","author":"Sippl","year":"2011","journal-title":"Exp Eye Res"},{"key":"R39-20260504","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1471-2121-11-4","article-title":"Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant","volume":"11","author":"Nagabhushana","year":"2010","journal-title":"BMC Cell Biol"},{"key":"R40-20260504","doi-asserted-by":"crossref","first-page":"e11547","DOI":"10.1371\/journal.pone.0011547","article-title":"Impairment of protein trafficking upon overexpression and mutation of optineurin","volume":"5","author":"Park","year":"2010","journal-title":"PLoS One"},{"key":"R41-20260504","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1128\/MCB.18.3.1601","article-title":"Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains","volume":"18","author":"Li","year":"1998","journal-title":"Mol Cell Biol"},{"key":"R42-20260504","doi-asserted-by":"crossref","first-page":"16855","DOI":"10.1038\/s41598-017-17241-0","article-title":"661W is a retinal ganglion precursor-like cell line in which glaucoma-associated optineurin mutants induce cell death selectively","volume":"7","author":"Sayyad","year":"2017","journal-title":"Sci Rep"},{"key":"R43-20260504","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1167\/iovs.06-0834","article-title":"A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants","volume":"48","author":"Chalasani","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R44-20260504","doi-asserted-by":"crossref","first-page":"105075","DOI":"10.1016\/j.neuint.2021.105075","article-title":"Human primary retinal cells as an in-vitro model for investigating defective signalling caused by OPTN mutants associated with glaucoma","volume":"148","author":"Sayyad","year":"2021","journal-title":"Neurochem Int"},{"key":"R45-20260504","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.stemcr.2020.05.009","article-title":"Retinal ganglion cells with a glaucoma OPTN(E50K) mutation exhibit neurodegenerative phenotypes when derived from three-dimensional retinal organoids","volume":"15","author":"VanderWall","year":"2020","journal-title":"Stem Cell Reports"},{"key":"R46-20260504","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1016\/j.stemcr.2022.05.006","article-title":"Astrocytes modulate neurodegenerative phenotypes associated with glaucoma in OPTN(E50K) human stem cell-derived retinal ganglion cells","volume":"17","author":"Gomes","year":"2022","journal-title":"Stem Cell Reports"},{"key":"R47-20260504","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1093\/hmg\/ddq146","article-title":"Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice","volume":"19","author":"Chi","year":"2010","journal-title":"Hum Mol Genet"},{"key":"R48-20260504","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1007\/s11033-011-0840-0","article-title":"Transgenic mice with overexpression of mutated human optineurin(E50K) in the retina","volume":"39","author":"Meng","year":"2012","journal-title":"Mol Biol Rep"},{"key":"R49-20260504","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1016\/j.neurobiolaging.2015.02.012","article-title":"Visual impairment in an optineurin mouse model of primary open-angle glaucoma","volume":"36","author":"Tseng","year":"2015","journal-title":"Neurobiol Aging"},{"key":"R50-20260504","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/s41419-022-04836-3","article-title":"Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation","volume":"13","author":"Hou","year":"2022","journal-title":"Cell Death Dis"},{"key":"R51-20260504","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1080\/14728222.2020.1826929","article-title":"Targeting TANK-binding kinase 1 (TBK1) in cancer","volume":"24","author":"Revach","year":"2020","journal-title":"Expert Opin Ther Targets"},{"key":"R52-20260504","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13046-022-02352-y","article-title":"The role of TBK1 in cancer pathogenesis and anticancer immunity","volume":"41","author":"Runde","year":"2022","journal-title":"J Exp Clin Cancer Res"},{"key":"R53-20260504","doi-asserted-by":"crossref","first-page":"2482","DOI":"10.1093\/hmg\/ddr123","article-title":"Copy number variations on chromosome 12q14 in patients with normal tension glaucoma","volume":"20","author":"Fingert","year":"2011","journal-title":"Hum Mol Genet"},{"key":"R54-20260504","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.exer.2011.12.021","article-title":"Confirmation of TBK1 duplication in normal tension glaucoma","volume":"96","author":"Kawase","year":"2012","journal-title":"Exp Eye Res"},{"key":"R55-20260504","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1097\/IJG.0000000000000792","article-title":"Genomic organization of TBK1 copy number variations in glaucoma patients","volume":"26","author":"DeLuca","year":"2017","journal-title":"J Glaucoma"},{"key":"R56-20260504","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ajo.2014.09.044","article-title":"Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma","volume":"159","author":"Awadalla","year":"2015","journal-title":"Am J Ophthalmol"},{"key":"R57-20260504","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1097\/IJG.0000000000001466","article-title":"Genomic characterization of TBK1 duplication in Korean normal-tension glaucoma patients","volume":"29","author":"Kim","year":"2020","journal-title":"J Glaucoma"},{"key":"R58-20260504","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1001\/jamaophthalmol.2014.104","article-title":"TBK1 gene duplication and normal-tension glaucoma","volume":"132","author":"Ritch","year":"2014","journal-title":"JAMA Ophthalmol"},{"key":"R59-20260504","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s12041-016-0637-y","article-title":"TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin","volume":"95","author":"Kaurani","year":"2016","journal-title":"J Genet"},{"key":"R60-20260504","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.molmed.2016.04.006","article-title":"Human TBK1: A gatekeeper of neuroinflammation","volume":"22","author":"Ahmad","year":"2016","journal-title":"Trends Mol Med"},{"key":"R61-20260504","first-page":"161","article-title":"Duplication of TBK1 stimulates autophagy in iPSC-derived retinal cells from a patient with normal tension glaucoma","volume":"3","author":"Tucker","year":"2014","journal-title":"J Stem Cell Res Ther"},{"key":"R62-20260504","first-page":"124","article-title":"Transgenic TBK1 mice have features of normal tension glaucoma","volume":"26","author":"Fingert","year":"2017","journal-title":"Hum Mol Genet"},{"key":"R63-20260504","doi-asserted-by":"crossref","first-page":"103951","DOI":"10.1016\/j.ejmg.2020.103951","article-title":"Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features","volume":"63","author":"Smaili","year":"2020","journal-title":"Eur J Med Genet"},{"key":"R64-20260504","doi-asserted-by":"crossref","first-page":"2756","DOI":"10.1016\/j.celrep.2017.08.088","article-title":"Histone H3 methylated at arginine 17 is essential for reprogramming the paternal genome in zygotes","volume":"20","author":"Hatanaka","year":"2017","journal-title":"Cell Rep"},{"key":"R65-20260504","doi-asserted-by":"crossref","first-page":"115633","DOI":"10.1016\/j.biopha.2023.115633","article-title":"Role of epigenetic regulation in glaucoma","volume":"168","author":"Feng","year":"2023","journal-title":"Biomed Pharmacother"},{"key":"R66-20260504","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1172\/JCI43922","article-title":"Loss of TFF1 is associated with activation of NF-\u03baB-mediated inflammation and gastric neoplasia in mice and humans","volume":"121","author":"Soutto","year":"2011","journal-title":"J Clin Invest"},{"key":"R67-20260504","doi-asserted-by":"crossref","first-page":"17023","DOI":"10.1038\/sigtrans.2017.23","article-title":"NF-\u03baB signaling in inflammation","volume":"2","author":"Liu","year":"2017","journal-title":"Signal Transduct Target Ther"},{"key":"R68-20260504","doi-asserted-by":"crossref","first-page":"11181","DOI":"10.1073\/pnas.1402819111","article-title":"Caspase-8 promotes NLRP1\/NLRP3 inflammasome activation and IL-1\u03b2 production in acute glaucoma","volume":"111","author":"Chi","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R69-20260504","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/path.2858","article-title":"Retinal ganglion cell death is induced by microglia derived pro-inflammatory cytokines in the hypoxic neonatal retina","volume":"224","author":"Sivakumar","year":"2011","journal-title":"J Pathol"},{"key":"R70-20260504","first-page":"480","article-title":"Myocilin-associated glaucoma: A historical perspective and recent research progress","volume":"27","author":"Sharma","year":"2021","journal-title":"Mol Vis"},{"key":"R71-20260504","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1126\/science.275.5300.668","article-title":"Identification of a gene that causes primary open angle glaucoma","volume":"275","author":"Stone","year":"1997","journal-title":"Science"},{"key":"R72-20260504","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.exer.2017.05.002","article-title":"Major review: Molecular genetics of primary open-angle glaucoma","volume":"160","author":"Liu","year":"2017","journal-title":"Exp Eye Res"},{"key":"R73-20260504","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.3892\/mmr.2020.11215","article-title":"Primary open angle glaucoma genetics: The common variants and their clinical associations (Review)","volume":"22","author":"Trivli","year":"2020","journal-title":"Mol Med Rep"},{"key":"R74-20260504","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1097\/00061198-199904000-00012","article-title":"A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma","volume":"8","author":"Mardin","year":"1999","journal-title":"J Glaucoma"},{"key":"R75-20260504","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/humu.9092","article-title":"Novel mutations in the MYOC\/GLC1A gene in a large group of glaucoma patients","volume":"20","author":"Michels-Rautenstrauss","year":"2002","journal-title":"Hum Mutat"},{"key":"R76-20260504","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1001\/archopht.120.9.1189","article-title":"Variations in the myocilin gene in patients with open-angle glaucoma","volume":"120","author":"Alward","year":"2002","journal-title":"Arch Ophthalmol"},{"key":"R77-20260504","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1001\/jamaophthalmol.2019.0005","article-title":"Myocilin mutations in patients with normal-tension glaucoma","volume":"137","author":"Alward","year":"2019","journal-title":"JAMA Ophthalmol"},{"key":"R78-20260504","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1001\/jamaophthalmol.2021.1610","article-title":"Association of the MYOC p.(Gln368Ter) variant with glaucoma in a Finnish population","volume":"139","author":"Liuska","year":"2021","journal-title":"JAMA Ophthalmol"},{"key":"R79-20260504","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1093\/hmg\/8.5.899","article-title":"Analysis of myocilin mutations in 1703 glaucoma patients from five different populations","volume":"8","author":"Fingert","year":"1999","journal-title":"Hum Mol Genet"},{"key":"R80-20260504","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.exer.2015.06.019","article-title":"Using genetic mouse models to gain insight into glaucoma: Past results and future possibilities","volume":"141","author":"Fernandes","year":"2015","journal-title":"Exp Eye Res"},{"key":"R81-20260504","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/S1350-9462(02)00010-1","article-title":"Myocilin and glaucoma: Facts and ideas","volume":"21","author":"Tamm","year":"2002","journal-title":"Prog Retin Eye Res"},{"key":"R82-20260504","first-page":"126","article-title":"Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product","volume":"211","author":"Polansky","year":"1997","journal-title":"Ophthalmologica"},{"key":"R83-20260504","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1093\/hmg\/10.2.117","article-title":"Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor","volume":"10","author":"Jacobson","year":"2001","journal-title":"Hum Mol Genet"},{"key":"R84-20260504","doi-asserted-by":"crossref","first-page":"7707","DOI":"10.1128\/MCB.21.22.7707-7713.2001","article-title":"Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function","volume":"21","author":"Kim","year":"2001","journal-title":"Mol Cell Biol"},{"key":"R85-20260504","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/humu.10053","article-title":"Differential occurrence of mutations causative of eye diseases in the Chinese population","volume":"19","author":"Pang","year":"2002","journal-title":"Hum Mutat"},{"key":"R86-20260504","doi-asserted-by":"crossref","first-page":"9019","DOI":"10.1128\/MCB.24.20.9019-9025.2004","article-title":"Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma","volume":"24","author":"Gould","year":"2004","journal-title":"Mol Cell Biol"},{"key":"R87-20260504","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.exer.2008.08.011","article-title":"Glaucoma-associated myocilin: A better understanding but much more to learn","volume":"88","author":"Resch","year":"2009","journal-title":"Exp Eye Res"},{"key":"R88-20260504","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1093\/hmg\/ddm001","article-title":"Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure","volume":"16","author":"Shepard","year":"2007","journal-title":"Hum Mol Genet"},{"key":"R89-20260504","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1038\/nature09320","article-title":"Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS","volume":"466","author":"Elden","year":"2010","journal-title":"Nature"},{"key":"R90-20260504","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.3482","article-title":"Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma","volume":"48","author":"Bailey","year":"2016","journal-title":"Nat Genet"},{"key":"R91-20260504","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.molcel.2016.11.003","article-title":"Arginine methylation: The coming of age","volume":"65","author":"Blanc","year":"2017","journal-title":"Mol Cell"},{"key":"R92-20260504","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/hmg\/ddr448","article-title":"Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS\/TLS harbouring ALS-linked mutations","volume":"21","author":"Tradewell","year":"2012","journal-title":"Hum Mol Genet"}],"container-title":["Indian Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/IJO.IJO_3204_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:40Z","timestamp":1786650160000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/IJO.IJO_3204_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,23]]},"references-count":92,"journal-issue":{"issue":"Suppl 3","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.4103\/ijo.ijo_3204_23","relation":{},"ISSN":["0301-4738","1998-3689"],"issn-type":[{"value":"0301-4738","type":"print"},{"value":"1998-3689","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,23]]},"assertion":[{"value":"2023-12-08","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-26","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}