不同年龄段单纯性中央浆液性脉络膜视网膜病变的临床和遗传特征。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2024-11-10 DOI:10.1080/13816810.2024.2426559
Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi
{"title":"不同年龄段单纯性中央浆液性脉络膜视网膜病变的临床和遗传特征。","authors":"Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi","doi":"10.1080/13816810.2024.2426559","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To investigate whether genetic and clinical characteristics differ depending on generations using 326 patients (male/female, 259/67; mean age, 55.4 ± 12.5 years) with simple CSC.</p><p><strong>Methods: </strong>All patients were diagnosed with simple CSC, defined as a retinal pigment epithelium alteration area equal to or smaller than 2-disc areas based on multimodal imaging at the initial presentation. We cross-sectionally evaluated clinical characteristics at the initial visit and genotyped <i>CFH</i> rs800292 and rs1329428 for all patients using TaqMan technology.</p><p><strong>Results: </strong>As generations decreased, the proportion of males, subfoveal choroidal thickness, and prevalence of fibrin significantly increased (<i>p</i> < 0.001, <i>p</i> < 0.001, and <i>p</i> = 0.012, respectively), and the best-corrected visual acuity improved (<i>p</i> < 0.001); in contrast, the prevalence of pachydrusen significantly decreased (<i>p</i> < 0.001). The younger presentation was significantly associated with male and risk variants (T allele) of <i>CFH</i> rs1329428 (<i>p</i> = 9.1 × 10<sup>-7</sup> and <i>p</i> = 0.042, respectively), and patients were estimated to present 2 years younger per one T allele of <i>CFH</i> rs1329428 (<i>p</i> = 0.042, β = -1.95, stepwise regression analysis).</p><p><strong>Conclusion: </strong>Clinical and genetic characteristics differed significantly among patients with simple CSC, depending on their generation.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2000,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical and genetic characteristics of simple central serous chorioretinopathy according to age.\",\"authors\":\"Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi\",\"doi\":\"10.1080/13816810.2024.2426559\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To investigate whether genetic and clinical characteristics differ depending on generations using 326 patients (male/female, 259/67; mean age, 55.4 ± 12.5 years) with simple CSC.</p><p><strong>Methods: </strong>All patients were diagnosed with simple CSC, defined as a retinal pigment epithelium alteration area equal to or smaller than 2-disc areas based on multimodal imaging at the initial presentation. We cross-sectionally evaluated clinical characteristics at the initial visit and genotyped <i>CFH</i> rs800292 and rs1329428 for all patients using TaqMan technology.</p><p><strong>Results: </strong>As generations decreased, the proportion of males, subfoveal choroidal thickness, and prevalence of fibrin significantly increased (<i>p</i> < 0.001, <i>p</i> < 0.001, and <i>p</i> = 0.012, respectively), and the best-corrected visual acuity improved (<i>p</i> < 0.001); in contrast, the prevalence of pachydrusen significantly decreased (<i>p</i> < 0.001). The younger presentation was significantly associated with male and risk variants (T allele) of <i>CFH</i> rs1329428 (<i>p</i> = 9.1 × 10<sup>-7</sup> and <i>p</i> = 0.042, respectively), and patients were estimated to present 2 years younger per one T allele of <i>CFH</i> rs1329428 (<i>p</i> = 0.042, β = -1.95, stepwise regression analysis).</p><p><strong>Conclusion: </strong>Clinical and genetic characteristics differed significantly among patients with simple CSC, depending on their generation.</p>\",\"PeriodicalId\":19594,\"journal\":{\"name\":\"Ophthalmic Genetics\",\"volume\":\" \",\"pages\":\"1-6\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-11-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ophthalmic Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/13816810.2024.2426559\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13816810.2024.2426559","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

目的:以326例单纯性CSC患者(男/女,259/67;平均年龄(55.4 ± 12.5))为研究对象,探讨不同世代的遗传和临床特征是否存在差异:所有患者均被诊断为单纯性 CSC,根据多模态成像,初次就诊时视网膜色素上皮改变面积等于或小于 2 盘面积即被定义为单纯性 CSC。我们对初诊时的临床特征进行了横断面评估,并使用 TaqMan 技术对所有患者的 CFH rs800292 和 rs1329428 进行了基因分型:随着世代减少,男性比例、眼底脉络膜厚度和纤维蛋白患病率显著增加(p p p = 0.012,分别),最佳矫正视力改善(p p CFH rs1329428(p = 9.1 × 10-7 和 p = 0.042),CFH rs1329428 的每一个 T 等位基因估计可使患者年轻 2 岁(p = 0.042,β = -1.95,逐步回归分析):结论:单纯性 CSC 患者的临床和遗传特征因世代不同而存在显著差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Clinical and genetic characteristics of simple central serous chorioretinopathy according to age.

Purpose: To investigate whether genetic and clinical characteristics differ depending on generations using 326 patients (male/female, 259/67; mean age, 55.4 ± 12.5 years) with simple CSC.

Methods: All patients were diagnosed with simple CSC, defined as a retinal pigment epithelium alteration area equal to or smaller than 2-disc areas based on multimodal imaging at the initial presentation. We cross-sectionally evaluated clinical characteristics at the initial visit and genotyped CFH rs800292 and rs1329428 for all patients using TaqMan technology.

Results: As generations decreased, the proportion of males, subfoveal choroidal thickness, and prevalence of fibrin significantly increased (p < 0.001, p < 0.001, and p = 0.012, respectively), and the best-corrected visual acuity improved (p < 0.001); in contrast, the prevalence of pachydrusen significantly decreased (p < 0.001). The younger presentation was significantly associated with male and risk variants (T allele) of CFH rs1329428 (p = 9.1 × 10-7 and p = 0.042, respectively), and patients were estimated to present 2 years younger per one T allele of CFH rs1329428 (p = 0.042, β = -1.95, stepwise regression analysis).

Conclusion: Clinical and genetic characteristics differed significantly among patients with simple CSC, depending on their generation.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
期刊最新文献
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastoma. Family and genetic counseling in Leber hereditary optic neuropathy. Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images. A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Antioxidant MitoQ increases viability of human corneal endothelial cells with congenital hereditary endothelial dystrophy-associated SLC4A11 mutations.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1