{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:05:42Z","timestamp":1788836742130,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,2,26]],"date-time":"2013-02-26T00:00:00Z","timestamp":1361836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in fibrillin\u20101 (<jats:italic>FBN1<\/jats:italic>) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin\u20101 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well\u2010characterized. In this report, ocular examination of a patient diagnosed with Marfan syndrome based on family history and aortic dilatation was performed, including measurement of facility of aqueous humor outflow by tonography. The patient did not have ectopia lentis at the age of 42 years. Based on optic nerve appearance, reduced outflow facility, elevated IOP with open angles and clear signs of pigment dispersion, the patient was diagnosed with pigmentary glaucoma. The patient was heterozygous for a novel truncating mutation in <jats:italic>FBN1<\/jats:italic>, p.Leu72Ter. Histology of normal human eyes revealed abundant expression of elastic fibers and fibrillin\u20101 in aqueous humor outflow structures. This is the first report of a patient with Marfan syndrome that is caused by a confirmed <jats:italic>FBN1<\/jats:italic> mutation with associated pigmentary glaucoma. In addition to identifying a novel mutation of <jats:italic>FBN1<\/jats:italic> and broadening the spectrum of associated ocular phenotypes in Marfan syndrome, our findings suggest that pigmentary glaucoma may involve defects in fibrillin\u20101 microfibrils. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35838","type":"journal-article","created":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T05:07:10Z","timestamp":1361941630000},"page":"880-883","source":"Crossref","is-referenced-by-count":16,"title":["Marfan syndrome caused by a novel <i>FBN1<\/i> mutation with associated pigmentary glaucoma"],"prefix":"10.1002","volume":"161","author":[{"given":"John","family":"Kuchtey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ta Chen","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lampros","family":"Panagis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel W.","family":"Kuchtey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020020235011"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-005-1141-x"},{"key":"e_1_2_5_5_1","first-page":"387","article-title":"Experimental obstruction to aqueous outflow by pigment particles in living monkeys","volume":"27","author":"Epstein DL","year":"1986","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-011-1274-7"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00061198-200604000-00011"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1963.00960040789022"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5620"},{"key":"e_1_2_5_11_1","first-page":"111","article-title":"Glaucoma in the marfan syndrome","volume":"90","author":"Izquierdo NJ","year":"1992","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2011.03.011"},{"key":"e_1_2_5_13_1","first-page":"269","article-title":"Pigmentary dispersion syndrome and pigmentary glaucoma: A new mechanism concept, a new treatment, and a new technique","volume":"23","author":"Karickhoff JR","year":"1992","journal-title":"Ophthalmic Surg"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(75)90283-4"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4835(86)90005-9"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1992.01080240119043"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(94)31331-5"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2010.07.026"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1995.01100010105028"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35838","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35838","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.35838","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35838","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:30:26Z","timestamp":1697592626000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35838"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,26]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1002\/ajmg.a.35838"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35838","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,26]]}}}