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Evaluation of FGF10 as a candidate gene for high myopia in a Han Chinese population

Eye and Vision 2019年第1期6卷 284-290页

作者： Lingxi Jiang Dongyan Luo Tingting Wang Rui Zheng Yaru Zhai Xiaoqi Liu Bo Gong Zhengzheng Wu Yin Yang Zhenglin Yang Yi Shi Sichuan Provincial Key Laboratory for Human Disease Gene Study Department of Clinical LaboratorySichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalSchool of MedicineUniversity of Electronic Science and Technology of China32 the First Ring Road West 2Chengdu 610072SichuanChina Department of Ophthalmology Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengduChina. Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital ChengduSichuanChina

Background:Fibroblast growth factor 10(FGF10)is implicated in the growth and development of the *** singles nucleotide polymorphisms(SNPs)in the FGF10 gene(including rs1384449,rs339501,rs12517396 and rs10462070)were found to be associated with extreme myopia(EM,refractive error≤−10.0 diopters)in Japanese and Chinese Taiwan *** case-control association study was conducted to explore the relationship between these four SNPs and high myopia in a western Chinese ***:A total of 869 high myopia patients(HM,including 485 EM patients)and 899 healthy controls were *** four SNPs were genotyped using the ABI SNaPshot *** genetic models(allelic,homozygous,heterozygous,dominant,and recessive)were applied to further evaluate the possible correlation between the SNPs and high *** linkage-disequilibrium block(LD)structure was tested by Haploview ***:In our study,no statistically significant differences were found between HM/EM patients and controls after Bonferroni multiple-correction(P>0.05)in the allele frequencies of these four SNPs in the FGF10 *** further found that rs12517396AA and rs10462070GG carriers showed a decreased risk of HM/EM compared with rs12517396AC+CC and rs10462070GA+AA carriers(P=0.045,OR=0.366;P=0.021,OR=0.131;P=0.03,OR=0.341;P=0.015,OR=0.122;respectively).Additionally,rs12517396AA and rs10462070GG carriers showed the same decreased risk of HM/EM compared with rs12517396CC and rs10462070AA carriers(P=0.048,OR=0.370;P=0.023,OR=0.133;P=0.032,OR=0.346;P=0.017,OR=0.126).However,these significant associations between rs12517396/rs10462070 and HM/EM disappeared after Bonferroni multiple-correction(P>0.05).Conclusion:Our findings indicate that rs12517396 and rs10462070 had marginal association with HM and *** other two common polymorphisms in FGF10 unlikely have significant effects in the genetic predisposition to HM/EM in western Chinese *** replication studies are needed

关键词： high myopia Extreme myopia Association study Fibroblast growth factor 10

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Five‑year outcomes of EVO implantable collamer lens implantation for the correction of high myopia and super high myopia

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Eye and Vision 2021年第1期8卷 404-411页

作者： Xun Chen Xuanqi Wang Yilin Xu Mingrui Cheng Tian Han LingLing Niu Xiaoying Wang Xingtao Zhou Fudan University Eye Ear Nose and Throat Hospital No.19 BaoQing RoadXuHui DistrictShanghai 200031China National Health Commission Key Lab of myopia(Fudan University) ShanghaiChina Shanghai Research Center of Ophthalmology and Optometry ShanghaiChina

Background:To evaluate the long-term safety,efficacy,predictability,and stability of implantable collamer lens with a central hole(EVO ICL)implantation for correcting high myopia(HM)and super high myopia(SHM).Methods:This prospective study evaluated 83 eyes of 46 patients who were divided into groups based on their spherical equivalent refractive error(SE):HM group(−12 D≤SE<−6 D)and SHM group(SE<−12 D).They were followed up for 5 years after ICL implantation;assessments of uncorrected distance visual acuity(UDVA),corrected distance visual acuity(CDVA),manifest refractive error,axial length,intraocular pressure,corneal endothelial cell density,and vault were conducted,and a questionnaire was ***:At 5 years postoperatively,the safety indices of the HM and SHM groups were 1.03±0.10 and 1.32±0.39,and the efficacy indices were 0.83±0.25 and 0.86±0.32,*** the HM group,60.47%and 79.07%of the eyes were within±0.50 D and±1.00 D of the attempted correction,while it was achieved for 22.50%and 47.50%of the eyes in the SHM group,*** SE of the HM group decreased from−9.72±1.41 D preoperatively to 0.04±0.39 D 1 month postoperatively and−0.67±0.57 D 5 years postoperatively,while in the SHM group,it decreased from−15.78±3.06 D preoperatively to−0.69±0.97 D 1 month postoperatively and−1.74±1.19 D 5 years ***:EVO ICL implantation is safe,effective,and predictable for correcting HM and *** improved more after surgery for SHM,but the growth of axial length still needs attention.

关键词： Posterior chamber phakic intraocular lens implantation high myopia Super high myopia EVO ICL

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Five-year results of refractive outcomes and visionrelated quality of life after SMILE for the correction of high myopia

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International Journal of Ophthalmology(English edition) 2021年第9期14卷 1365-1370页

作者： Min Lang Kai-Wei Cao Ting Liu Ying Zhu Jian Ye Department of Ophthalmology Daping HospitalArmy Medical UniversityChongqing 400042China

AIM:To evaluate the long-term visual,refractive outcomes and vision-related quality of life after small incision lenticule extraction(SMILE)for the correction of high ***:Thirty patients(60 eyes)with high myopia who underwent SMILE more than 5y were selected as the SMILE *** 30 high myopia patients(60 eyes)who had worn corrective spectacles for more than 5y were selected as the control *** SMILE group,the postoperative follow-up time were 3,6 mo,1 and *** distance visual acuity(UDVA),corrected distance visual acuity(CDVA),spherical equivalent(SE),and ocular axial length(AL)were *** Chinese version of the National Eye Institute Visual Function Questionnaire-25(CHI-NEI-VFQ-25)was used to evaluate the vision-related quality of life in the SMILE group and the control ***:In SMILE group,the mean preoperative SE was-7.29±0.87 D(range-6.00 to-9.125 D).At 5-year follow up,the efficacy index and safety index of SMILE were 1.09±0.18 and 1.19±0.12,*** years postoperatively,44 eyes(73%)obtained a visual acuity of 20/20 or *** were no eyes with CDVA loss of one or more Snellen ***-nine eyes(82%)and 57 eyes(95%)were within±0.50 and±1.00 D of attempted correction at 5-year follow-up,***-eight eyes(80%)had astigmatismhigher total score on the CHI-NEI-VFQ-25(90.14 vs 81.43,Phigh myopia with SMILE is safe,effective,and ***-related quality of life after SMILE is better in the SMILE group than in the control group who wore corrective

关键词： small incision lenticule extraction high myopia long-term follow-up

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Macular Bruch's membrane defects and other myopic lesions in high myopia

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International Journal of Ophthalmology(English edition) 2022年第3期15卷 466-473页

作者： Li-Hui Meng Ming-Zhen Yuan Xin-Yu Zhao You-Xin Chen Department of Ophthalmology Peking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China Key Laboratory of Ocular Fundus Diseases Chinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China Beijing Tongren Eye Center Beijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology and Visual Sciences Key LaboratoryBeijing 100730China

AIM: To compare the ocular fundus features of highly myopic eyes with and without macular Bruch’s membrane(BM) defects and investigate the associations between macular BM defects and other myopic ***: This retrospective, observational case series included 262 eyes(139 patients) with high myopia(HM) refractive error ≥-6.0 diopters(D) or axial length ≥26.5 mm from March 2019 to December *** patients underwent a comprehensive ophthalmic examination, including sweptsource optical coherence tomography(SS-OCT).The features of macular BM defects and other ocular fundus lesions were examined in OCT ***: Totally 51 eyes(19.5%) were detected with macular BM defects, which were characterized by a lack of BM, retinal pigment epithelium(RPE), and an almost complete loss of photoreceptors or *** with macular BM defects had worse best-corrected visual acuity(BCVA) than those without(P<0.001).Dome-shaped macula(DSM, P=0.042), retinal cysts(P=0.006), choroidal neovascularization(CNV, P<0.001), choroidal defects and abnormality(P=0.003), scleral defects(P=0.015), scleral deformation(P=0.005), posterior staphyloma(P=0.011), and perforating vessels(P<0.001) occurred more frequently in eyes with macular BM *** multivariate analysis, the presence of macular BM defects remained the significant association with presence of DSM(P=0.013), scleral defects(P=0.015), posterior staphyloma(P=0.001), perforating vessels(P<0.001) and CNV(P=0.004).CONCLUSION: Macular BM defects has a prevalence of approximately 20% in HM and it has tight association with other myopic fundus *** might be crucial in the pathogenesis of myopic fundus lesions due to its biomechanical function.A comprehensive understanding of BM’s role is useful for further researches about myopic lesions.

关键词： Bruch’s membrane high myopia swept source optical coherence tomography

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Identification of LRRC46 as a novel candidate gene for high myopia

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Science China(Life Sciences) 2024年第9期67卷 1941-1956页

作者： Lingxi Jiang Chao Dai Yao Wei Bo Zhao Qi Li Zhengzheng Wu Liang Zou Zimeng Ye Zhenglin Yang Lulin Huang Yi Shi Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics Department of Laboratory MedicineSichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Department of Ophthalmology Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengdu 610072China School of Food and Bioengineering Chengdu UniversityChengdu 610106China School of Medicine University of SydneySydney 2050Australia Jinfeng Laboratory Chongging 400000China

high myopia(HM)is the primary cause of blindness,with the microstructural organization and composition of collagenous fibers in the cornea and sclera playing a crucial role in the biomechanical behavior of these *** a previously reported myopic linkage region,MYP5(17q21-22),a potential candidate gene,LRRC46(c.C235T,p.Q79X),was identified in a large Han Chinese ***46 is expressed in various eye tissues in humans and mice,including the retina,cornea,and *** subsequent cell experiments,the mutation(c.C235T)decreased the expression of LRRC46 protein in human corneal epithelial cells(HCE-T).Further investigation revealed that Lrrc46^(-/-)mice(KO)exhibited a classical myopia *** thickness of the cornea and sclera in KO mice became thinner and more pronounced with age,the activity of limbal stem cells decreased,and microstructural changes were observed in the fibroblasts of the sclera and *** performed RNA-seq on scleral and corneal tissues of KO and normal control wild-type(WT)mice,which indicated a significant downregulation of the collagen synthesis-related pathway(extracellular matrix,ECM)in KO *** in vitro studies further indicated that LRRC46,a member of the important LRR protein family,primarily affected the formation of *** study suggested that LRRC46 is a novel candidate gene for HM,influencing collagen protein VⅢ(Col8a1)formation in the eye and gradually altering the biomechanical structure of the cornea and sclera,thereby promoting the occurrence and development of HM.

关键词： high myopia LRRC46 biomechanics collagen protein VⅢ

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