{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T19:09:39Z","timestamp":1785870579495,"version":"3.56.0"},"reference-count":78,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:p>Juvenile onset open angle glaucoma (<jats:styled-content style=\"fixed-case\">JOAG<\/jats:styled-content>) affects patients before 40\u2009years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with <jats:styled-content style=\"fixed-case\">JOAG<\/jats:styled-content>. We also analyzed the inheritance patterns in a large group of unrelated <jats:styled-content style=\"fixed-case\">JOAG<\/jats:styled-content> patients (<jats:italic>n<\/jats:italic>\u2009=\u2009336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance.<\/jats:p>","DOI":"10.1111\/cge.12906","type":"journal-article","created":{"date-parts":[[2016,10,25]],"date-time":"2016-10-25T13:16:37Z","timestamp":1477401397000},"page":"134-142","source":"Crossref","is-referenced-by-count":47,"title":["The inheritance of juvenile onset primary open angle glaucoma"],"prefix":"10.1111","volume":"92","author":[{"given":"V.","family":"Gupta","sequence":"first","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.I.","family":"Somarajan","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.K.","family":"Chaurasia","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kumar","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Dutta","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Anthropology University of Delhi  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Anatomy All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.O.","family":"Tayo","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences Stritch School of Medicine Loyola University Chicago  Maywood IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Nischal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology Children's Hospital of Pittsburgh of UPMC  Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/08820530701745199"},{"key":"e_1_2_8_3_1","first-page":"25","article-title":"Profile of glaucoma in a major eye hospital in north India","volume":"49","author":"Das J","year":"2001","journal-title":"Indian J Ophthalmol"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1970.00990040581004"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(13)31615-7"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000334033"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.69.9.664"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1994.01090130079022"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.116.12.1640"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.124.7.950"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000301064"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1987.tb07050.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(95)30793-2"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu050"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004170050278"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(00)00536-5"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(02)00353-3"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302098"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000308803"},{"key":"e_1_2_8_20_1","first-page":"508","article-title":"Contributions of MYOC and CYP1B1 mutations to JOAG","volume":"14","author":"Bayat B","year":"2008","journal-title":"Mol Vis"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-1549(03)00066-X"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0107"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2013.09.001"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10384-013-0286-0"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi068"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr572"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.016"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr120"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1349-5"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002654"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-6339"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.824"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.6.823"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-13927"},{"key":"e_1_2_8_35_1","first-page":"44","article-title":"Anticipation, anti\u2010glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation","volume":"7","author":"Li CM","year":"2014","journal-title":"Int J Ophthalmol"},{"key":"e_1_2_8_36_1","first-page":"442","article-title":"Mutations in MYOC gene of Indian primary open angle glaucoma patients","volume":"8","author":"Mukhopadhyay A","year":"2002","journal-title":"Mol Vis"},{"key":"e_1_2_8_37_1","first-page":"497","article-title":"Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India","volume":"13","author":"Rose R","year":"2007","journal-title":"Mol Vis"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804093381503"},{"key":"e_1_2_8_39_1","first-page":"243","article-title":"The distinction between juvenile and adult\u2010onset primary open\u2010angle glaucoma","volume":"58","author":"Wiggs JL","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2011.97"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046632"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1171-1"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.899"},{"key":"e_1_2_8_44_1","first-page":"2241","article-title":"Low prevalence of myocilin mutations in an African American population with primary open\u2010angle glaucoma","volume":"18","author":"Liu W","year":"2012","journal-title":"Mol Vis"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00232.x"},{"key":"e_1_2_8_46_1","first-page":"714","article-title":"Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile\u2010onset open angle glaucoma","volume":"20","author":"Mimiwati Z","year":"2014","journal-title":"Mol Vis"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.03.002"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0291-5"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2013.841961"},{"key":"e_1_2_8_50_1","first-page":"399","article-title":"Primary role of CYP1B1 in Indian juvenile\u2010onset POAG patients","volume":"12","author":"Acharya M","year":"2006","journal-title":"Mol Vis"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2012.09.016"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2012.159"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.4103\/2008-322X.156120"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.pharmtox.48.061807.154729"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07-0629"},{"key":"e_1_2_8_56_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-3880"},{"key":"e_1_2_8_57_1","doi-asserted-by":"publisher","DOI":"10.1086\/338709"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.020024"},{"key":"e_1_2_8_59_1","first-page":"111","article-title":"Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India","volume":"11","author":"Chakrabarti S","year":"2005","journal-title":"Mol Vis"},{"key":"e_1_2_8_60_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0555-z"},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8202715"},{"key":"e_1_2_8_62_1","first-page":"1530","article-title":"Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis","volume":"15","author":"Chen X","year":"2009","journal-title":"Mol Vis"},{"key":"e_1_2_8_63_1","doi-asserted-by":"publisher","DOI":"10.1124\/dmd.106.014282"},{"key":"e_1_2_8_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2006.07.054"},{"key":"e_1_2_8_65_1","first-page":"COMMENT2007","article-title":"Complex genetic diseases: controversy over the Croesus code","volume":"2","author":"Wright AF","year":"2001","journal-title":"Genome Biol"},{"key":"e_1_2_8_66_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12558"},{"key":"e_1_2_8_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2015"},{"key":"e_1_2_8_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)36803-5"},{"key":"e_1_2_8_69_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.367"},{"key":"e_1_2_8_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-1549(03)00062-2"},{"key":"e_1_2_8_71_1","first-page":"1449","article-title":"Pro370Leu myocilin mutation in a Chinese pedigree with juvenile\u2010onset open angle glaucoma","volume":"17","author":"Wei YT","year":"2011","journal-title":"Mol Vis"},{"key":"e_1_2_8_72_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.315.7109.629"},{"key":"e_1_2_8_73_1","doi-asserted-by":"publisher","DOI":"10.2307\/2533446"},{"key":"e_1_2_8_74_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.12.989"},{"key":"e_1_2_8_75_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.56.5.414"},{"key":"e_1_2_8_76_1","first-page":"300","article-title":"Segregation analysis of congenital glaucoma: approach by two differential models","volume":"33","author":"Demenais F","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1498"},{"key":"e_1_2_8_78_1","doi-asserted-by":"publisher","DOI":"10.1086\/302075"},{"key":"e_1_2_8_79_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210307"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12906","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:20:27Z","timestamp":1694323227000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,16]]},"references-count":78,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1111\/cge.12906"],"URL":"https:\/\/doi.org\/10.1111\/cge.12906","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,16]]}}}