{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:05:30Z","timestamp":1792073130653,"version":"4.4.0"},"reference-count":23,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5557","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2002,2,8]]},"abstract":"<jats:p>\n                    Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it\n                    <jats:italic>OPTN<\/jats:italic>\n                    (for \u201coptineurin\u201d). Sequence alterations in\n                    <jats:italic>OPTN<\/jats:italic>\n                    were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The\n                    <jats:italic>OPTN<\/jats:italic>\n                    gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor\u2013\u03b1 signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.\n                  <\/jats:p>","DOI":"10.1126\/science.1066901","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T05:35:18Z","timestamp":1027748118000},"page":"1077-1079","source":"Crossref","is-referenced-by-count":814,"title":["Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin"],"prefix":"10.1126","volume":"295","author":[{"given":"Tayebeh","family":"Rezaie","sequence":"first","affiliation":[{"name":"Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Child","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St. George's Hospital Medical School, London, SW17 0RE, UK."},{"name":"Glaucoma Research Unit, Moorfields Eye Hospital, London, ECIV 2PD, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Hitchings","sequence":"additional","affiliation":[{"name":"Glaucoma Research Unit, Moorfields Eye Hospital, London, ECIV 2PD, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glen","family":"Brice","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St. George's Hospital Medical School, London, SW17 0RE, UK."},{"name":"Glaucoma Research Unit, Moorfields Eye Hospital, London, ECIV 2PD, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauri","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Connecticut Health Center, Farmington, CT 06030, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Coca-Prados","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Science, Yale University, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"He\u0301on","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Vision Research Program UHN, Toronto, Canada M5T 2S8."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodore","family":"Krupin","sequence":"additional","affiliation":[{"name":"University Eye Specialists, 676 North St. Clair, Suite 320, Chicago, IL 60611, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Ritch","sequence":"additional","affiliation":[{"name":"New York Eye and Ear Infirmary, and New York Medical College, Valhalla, NY 10003, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald","family":"Kreutzer","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Connecticut Health Center, Farmington, CT 06030, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Pitts","family":"Crick","sequence":"additional","affiliation":[{"name":"International Glaucoma Association, 108C Warner Road, London, SE5 9HQ, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansoor","family":"Sarfarazi","sequence":"additional","affiliation":[{"name":"Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.80.5.389"},{"key":"e_1_3_1_3_2","first-page":"83","volume":"38","author":"Quigley H. A.","year":"1997","unstructured":"Quigley H. A., Vitale S., Invest. Ophthalmol. Vis. Sci. 38, 83 (1997).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_1_4_2","doi-asserted-by":"crossref","unstructured":"J. M. Tielsch et al. JAMA 266 369 (1991).","DOI":"10.1001\/jama.1991.03470030069026"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.76.8.494"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004397-199403430-00016"},{"key":"e_1_3_1_7_2","unstructured":"E. B. Werner in The Glaucomas R. Ritch M. B. Shields T. Krupin Eds. (Mosby St. Louis MO 1996) vol. 2 chap. 36."},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.67.12.818"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.10.1667"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.641"},{"key":"e_1_3_1_11_2","unstructured":"I. Stoilov et al. Am. J. Hum. Genet. 62 573 (1998)."},{"key":"e_1_3_1_12_2","doi-asserted-by":"crossref","unstructured":"E. M. Stone et al. Science 275 668 (1997).","DOI":"10.1126\/science.275.5300.668"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.18.3.1601"},{"key":"e_1_3_1_14_2","unstructured":"M. Sarfarazi et al. Am. J. Hum. Genet. 62 641 (1998)."},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M001500200"},{"key":"e_1_3_1_16_2","doi-asserted-by":"crossref","unstructured":"P. W. Faber et al. Hum. Mol. Genet. 7 1463 (1998).","DOI":"10.1093\/hmg\/7.9.1463"},{"key":"e_1_3_1_17_2","doi-asserted-by":"crossref","unstructured":"R. J. Moreland et al. Nucleic Acids Res. 28 1986 (2000).","DOI":"10.1093\/nar\/28.9.1986"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(00)00864-2"},{"key":"e_1_3_1_19_2","unstructured":"Supplementary Web material is available on Science Online at www.sciencemag.org\/cgi\/content\/full\/295\/5557\/1077\/DC1."},{"key":"e_1_3_1_20_2","unstructured":"T. Rezaie M. Sarfarazi unpublished data."},{"key":"e_1_3_1_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1136(200010)32:1<42::AID-GLIA40>3.0.CO;2-3"},{"key":"e_1_3_1_22_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-23-08693.2000"},{"key":"e_1_3_1_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100505"},{"key":"e_1_3_1_24_2","unstructured":"We thank P. Kaufman J. Seeman J. Suchecki and T. Digiulio for aqueous humors and eye specimens and P. Reynolds for clinical evaluation and interpretation of patients' notes. M.S. is supported by grants from the National Eye Institute (EY-09947) the International Glaucoma Association (IGA-G249) and the University of Connecticut General Clinical Research Center (M01-RR-06192). A.C. is supported by Bluff Field Charitable Trust U.K. the International Glaucoma Association and St. George's Hospital Medical School and National Health Service Trust. G.B. is supported by the Royal National Institute for the Blind."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1066901","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T17:07:23Z","timestamp":1704820043000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1066901"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2,8]]},"references-count":23,"journal-issue":{"issue":"5557","published-print":{"date-parts":[[2002,2,8]]}},"alternative-id":["10.1126\/science.1066901"],"URL":"https:\/\/doi.org\/10.1126\/science.1066901","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1005188.60969","asserted-by":"object"}]},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2,8]]}}}