Yanzheng Song1, Mingshen Sun1, Ningli Wang1, Xingtao Zhou1, Jing Zhao1, Qinmei Wang1, Shihao Chen1, Yingping Deng1, Lemei Qiu1, Yueguo Chen1, Anthony J Aldave1, Fengju Zhang2. 1. From the Beijing Tongren Eye Center (Song, Sun, N. Wang, Zhang), Beijing Tongren Hospital, Capital Medical University and Beijing Ophthalmology & Visual Sciences Key Laboratory, the Peking University Third Hospital (Y. Chen), Beijing, Key Laboratory of Myopia, Ministry of Health, Department of Ophthalmology (Zhou, Zhao), the Eye and ENT Hospital of Fudan University, Shanghai, the Eye Hospital of Wenzhou Medical University (Q. Wang, S. Chen), Wenzhou, the West China Hospital of Sichuan University (Deng, Qiu), Chengdu, China; the Stein Eye Institute (Aldave), University of California Los Angeles Medical Center, Los Angeles, California, USA. 2. From the Beijing Tongren Eye Center (Song, Sun, N. Wang, Zhang), Beijing Tongren Hospital, Capital Medical University and Beijing Ophthalmology & Visual Sciences Key Laboratory, the Peking University Third Hospital (Y. Chen), Beijing, Key Laboratory of Myopia, Ministry of Health, Department of Ophthalmology (Zhou, Zhao), the Eye and ENT Hospital of Fudan University, Shanghai, the Eye Hospital of Wenzhou Medical University (Q. Wang, S. Chen), Wenzhou, the West China Hospital of Sichuan University (Deng, Qiu), Chengdu, China; the Stein Eye Institute (Aldave), University of California Los Angeles Medical Center, Los Angeles, California, USA. Electronic address: wxw93@hotmail.com.
Abstract
PURPOSE: To determine the prevalence of the transforming growth factor (TGF) β-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 β-induced gene for the 5 most common mutations associated with Reis-Bückler 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 β-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 β-induced gene screening. CONCLUSIONS: The prevalence of the TGF β-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 β-induced gene dystrophy before elective keratorefractive surgery to avoid causing accelerated postoperative dystrophic deposition.
PURPOSE: To determine the prevalence of the transforming growth factor (TGF) β-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 β-induced gene for the 5 most common mutations associated with Reis-Bückler 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 β-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 β-induced gene screening. CONCLUSIONS: The prevalence of the TGF β-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 β-induced gene dystrophy before elective keratorefractive surgery to avoid causing accelerated postoperative dystrophic deposition.
Authors: Connie Chao-Shern; Lawrence A DeDionisio; Jun-Heok Jang; Clara C Chan; Vance Thompson; Kathleen Christie; M Andrew Nesbit; C B Tara McMullen Journal: Eye (Lond) Date: 2019-02-13 Impact factor: 3.775