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Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates

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机构: [1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Dong Jiao Min Xiang 1, Beijing 100730, Peoples R China [2]Peking Univ, Hosp 3, Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China [3]Fudan Univ, Eye & ENT Hosp, Minist Hlth, Dept Ophthalmol,Key Lab Myopia, Shanghai, Peoples R China [4]Wenzhou Med Univ, Hosp Eye, Wenzhou, Peoples R China [5]Sichuan Univ, West China Hosp, Chengdu, Sichuan, Peoples R China [6]Univ Calif Los Angeles, Med Ctr, Stein Eye Inst, Los Angeles, CA USA
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Purpose: To determine the prevalence of the transforming growth factor (TGF) beta-induced gene corneal dystrophies in refractive surgery candidates in China. Setting: Five hospitals in China. Design: Prospective case series. Method: Refractive surgical candidates from 5 preselected eye hospitals/centers in China were recruited after providing informed consent. All patients had slitlamp biomicroscopy and collection of a buccal swab as a source of DNA for screening of the TGF beta-induced gene for the 5 most common mutations associated with Reis-Buckler corneal dystrophy, Thiel-Behnke corneal dystrophy, granular corneal dystrophy type 1, granular corneal dystrophy type 2, and lattice corneal dystrophy type 1. Results: Of the 2068 refractive surgery candidates analyzed, 4 had corneal opacities in both eyes on slitlamp examination. Screening for the TGF beta-induced gene found the heterozygous p.R124H mutation associated with granular corneal dystrophy type 2 in each of the 4 individuals with corneal opacities as well as in a fifth individual who did not have any corneal opacities, for a prevalence of 0.24%. Exacerbation of dystrophic corneal deposition developed after laser refractive surgery in 2 individuals who did not have preoperative TGF beta-induced gene screening. Conclusions: The prevalence of the TGF beta-induced gene corneal dystrophies in Chinese refractive surgery candidates was estimated to be approximately 0.24%. Genetic testing is recommended to identify and exclude from candidacy all individuals with a TGF beta-induced gene dystrophy before elective keratorefractive surgery to avoid causing accelerated postoperative dystrophic deposition.

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基金编号: 81271041 81570877 81570879 81600762 2013-2-023 2015KYB253

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出版当年[2016]版:
大类 | 3 区 医学
小类 | 2 区 眼科学 2 区 外科
最新[2023]版:
大类 | 3 区 医学
小类 | 2 区 眼科学 3 区 外科
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出版当年[2015]版:
Q1 SURGERY Q1 OPHTHALMOLOGY
最新[2023]版:
Q1 SURGERY Q2 OPHTHALMOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2015版] 出版当年五年平均 出版前一年[2014版] 出版后一年[2016版]

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第一作者机构: [1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Dong Jiao Min Xiang 1, Beijing 100730, Peoples R China
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通讯机构: [1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Dong Jiao Min Xiang 1, Beijing 100730, Peoples R China [*1]Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, Dong Jiao Min Xiang 1, Beijing 100730, Peoples R China
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