{"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}
引用次数: 0
Abstract
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.