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Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals

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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 [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
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关键词: keratoconus genetics latent asymptomatic refractive surgery

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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.

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出版当年[2020]版
大类 | 2 区 生物
小类 | 2 区 发育生物学 3 区 细胞生物学
最新[2023]版:
大类 | 2 区 生物学
小类 | 2 区 发育生物学 3 区 细胞生物学
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出版当年[2019]版:
Q1 DEVELOPMENTAL BIOLOGY Q2 CELL BIOLOGY
最新[2023]版:
Q1 DEVELOPMENTAL BIOLOGY Q2 CELL BIOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2019版] 出版当年五年平均 出版前一年[2018版] 出版后一年[2020版]

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第一作者机构: [1]Center for Refractive Surgery, The Eye Hospital, Wenzhou Medical University, Wenzhou, China
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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
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