{"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":null,"pages":null},"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\":null,\"pages\":null},\"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。
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.
期刊介绍:
Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.