{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T14:29:36Z","timestamp":1767796176754,"version":"3.49.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,9,8]],"date-time":"2011-09-08T00:00:00Z","timestamp":1315440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmic Physiologic Optic"],"published-print":{"date-parts":[[2012,1]]},"abstract":"\n \n \n Citation information:<\/jats:bold>\n Liang Q, Sun X & Jin X.\n TGFBI<\/jats:italic>\n gene mutation in a Chinese pedigree with Reis\u2010B\u00fccklers corneal dystrophy.\n Ophthalmic Physiol Opt<\/jats:italic>\n 2011. doi: 10.1111\/j.1475\u20101313.2011.00867.x\n <\/jats:p>\n <\/jats:sec>\n \n Abstract<\/jats:title>\n \n Purpose:\u2002<\/jats:bold>\n To characterize the molecular defects in the\n TGFBI<\/jats:italic>\n gene in a Chinese family with Reis\u2010B\u00fccklers corneal dystrophy (RBCD), and to study the relationship between the gene mutations and the clinical manifestations.\n <\/jats:p>\n \n Methods:\u2002<\/jats:bold>\n Four generations of this family with RBCD were enrolled in the study. In addition to ophthalmic and histopathological examinations, polymerase chain reaction (PCR) amplification and analysis of nucleotide sequencing of exons 4, 12, 14 of TGFBI were performed.\n <\/jats:p>\n \n Results:\u2002<\/jats:bold>\n The clinical manifestations of the disease were characterized by geographic opacities in the subepithelial layers and anterior stroma of the cornea. Confocal microscopy images of the cornea showed focal hyper\u2010reflective materials deposited in the subepithelium and anterior stroma. It was confirmed by histopathology that Bowman\u2019s membrane was mainly replaced by extracellular fibril material, which extended downwards into the superficial corneal stroma. Molecular genetic analysis revealed a single heterozygous G>T change at nucleotide 124 in exon 4 of TGFBI in all members (22) of the pedigree affected with RBCD, but not in the unaffected members.\n <\/jats:p>\n \n Conclusions:\u2002<\/jats:bold>\n A p.Arg124Leu mutation of the\n TGFBI<\/jats:italic>\n gene was detected in this Chinese pedigree with Reis\u2010B\u00fccklers corneal dystrophy. The phenotype of Reis\u2010B\u00fccklers corneal dystrophy in this family belongs to the geographic type. The molecular genetic studies combined with histopathology may be useful for the accurate diagnosis of this type of corneal dystrophy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/j.1475-1313.2011.00867.x","type":"journal-article","created":{"date-parts":[[2011,9,8]],"date-time":"2011-09-08T03:23:06Z","timestamp":1315452186000},"page":"74-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["TGFBI<\/i>\n gene mutation in a Chinese pedigree with Reis\u2010B\u00fccklers corneal dystrophy"],"prefix":"10.1007","volume":"32","author":[{"given":"Qingfeng","family":"Liang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuguang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuying","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,9,8]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2009.03.004"},{"key":"e_1_2_5_3_2","first-page":"239","article-title":"Analysis of gene mutation in Chinese patients with Reis\u2010B\u00fccklers corneal dystrophy","volume":"41","author":"Tian X","year":"2005","journal-title":"ZhonghuaYan Ke Za Zhi"},{"key":"e_1_2_5_4_2","first-page":"556","article-title":"TGFBI gene mutation analysis in a Chinese pedigree of Reis\u2010B\u00fccklers corneal dystrophy","volume":"16","author":"Ma K","year":"2010","journal-title":"Mol Vis"},{"key":"e_1_2_5_5_2","first-page":"1298","article-title":"An atypical phenotype of Reis\u2010B\u00fccklers corneal dystrophy caused by the G623D mutation in TGFBI","volume":"14","author":"Li D","year":"2008","journal-title":"Mol Vis"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2007.07.029"},{"key":"e_1_2_5_7_2","first-page":"949","article-title":"BIGH3 mutation spectrum in corneal dystrophies","volume":"43","author":"Munier FL","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_5_8_2","first-page":"632","article-title":"Molecular genetic study on corneal dystrophy related to BIGH3 in China","volume":"24","author":"Weili D","year":"2006","journal-title":"Chin Ophthal Res"},{"key":"e_1_2_5_9_2","first-page":"1503","article-title":"A novel phenotype\u2010genotype relationship with a TGFBI exon 14 mutation in a pedigree with a uniquecorneal dystrophy of Bowman\u2019s layer","volume":"14","author":"Wheeldon CE","year":"2008","journal-title":"Mol Vis"},{"key":"e_1_2_5_10_2","first-page":"16","article-title":"Survey of patients with granular, lattice, avellino, and Reis\u2010B\u00fccklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes","volume":"119","author":"Afshari NA","year":"2001","journal-title":"Arch Ophthalmol"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2004.12.044"},{"key":"e_1_2_5_12_2","first-page":"1186","article-title":"Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature","volume":"16","author":"Yang J","year":"2010","journal-title":"Mol Vis"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.3109\/09286581003624939"},{"key":"e_1_2_5_14_2","first-page":"1234","article-title":"An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families","volume":"14","author":"Liu Z","year":"2008","journal-title":"Mol Vis"}],"container-title":["Ophthalmic and Physiological Optics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1475-1313.2011.00867.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1475-1313.2011.00867.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T11:26:43Z","timestamp":1767785203000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1475-1313.2011.00867.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,8]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1111\/j.1475-1313.2011.00867.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1475-1313.2011.00867.x","archive":["Portico"],"relation":{},"ISSN":["0275-5408","1475-1313"],"issn-type":[{"value":"0275-5408","type":"print"},{"value":"1475-1313","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,8]]},"assertion":[{"value":"2011-09-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}