Clinical and genetic characteristics of simple central serous chorioretinopathy according to age.

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
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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.

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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。
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。
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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
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