机构:[1]Center for Refractive Surgery, The Eye Hospital, Wenzhou Medical University, Wenzhou, China[2]Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou, China[3]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院[4]DNA Analysis, Molecular Biology and Genetics Center, Heraklion, Greece[5]Emmetropia Mediterranean Eye Institute, Heraklion, Greece[6]Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University and Capital Medical University, Beijing Tongren Hospital, Beijing, China首都医科大学附属北京同仁医院首都医科大学附属同仁医院
Purpose To adopt molecular screening in asymptomatic individuals at high risk of developing keratoconus as a combinative approach to prevent subclinical patients from post-refractive surgery progressive corneal ectasia. Methods In this study, 79 Chinese and nine Greek families with keratoconus were recruited, including 91 patients with clinically diagnosed keratoconus as well as their asymptomatic but assumptive high-risk first-degree relatives based on underlying genetic factor. Mutational screening of VSX1, TGFBI, and ZEB1 genes and full clinical assessment including Pentacam Scheimpflug tomography were carried out in these individuals. Results Five variants in VSX1 and TGFBI genes were identified in three Chinese families and one Greek family, and four of them were novel ones. Surprisingly, ultra-early corneal changes in Belin/Ambrosio Enhanced Ectasia Display of Pentacam corneal topography together with co-segregated variants were revealed in the relatives who had no self-reported symptoms. Conclusions Variants of VSX1 and TGFBI genes identified in both the clinically diagnosed and subclinical patients may cause the keratoconus through an autosomal dominant inheritance pattern, with different variable expressivity. Combining genetic with Belin/AmbrosioEnhanced Ectasia Display can be used to identify patients with latent keratoconus. This study indicates that genetic testing may play an important supplementary role in re-classifying the disease manifestation and evaluating the preoperative examination of refractive surgery.
基金:
National Key Research and Development Program of China [2017YFA0105300]; Zhejiang Provincial Natural Science Foundation of ChinaNatural Science Foundation of Zhejiang Province [LQ17H120005, LY20H120005]; Wenzhou Science and Technology Project [Y2020359]
第一作者机构:[1]Center for Refractive Surgery, The Eye Hospital, Wenzhou Medical University, Wenzhou, China
共同第一作者:
通讯作者:
通讯机构:[2]Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, National Center for International Research in Regenerative Medicine and Neurogenetics, Wenzhou, China[3]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China[6]Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University and Capital Medical University, Beijing Tongren Hospital, Beijing, China
推荐引用方式(GB/T 7714):
Chen Shihao,Li Xing-Yong,Jin Jia-Jia,et al.Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals[J].FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY.2021,9:doi:10.3389/fcell.2021.650344.
APA:
Chen, Shihao,Li, Xing-Yong,Jin, Jia-Jia,Shen, Ren-Juan,Mao, Jian-Yang...&Jin, Zi-Bing.(2021).Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY,9,
MLA:
Chen, Shihao,et al."Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals".FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY 9.(2021)