Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan; Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Ophthalmol Retina. 2021 Sep;5(9):910-917. doi: 10.1016/j.oret.2020.12.004. Epub 2020 Dec 10.
To survey the prevalence and clinical and genetic characteristics of pachydrusen in eyes with central serous chorioretinopathy (CSC) and those of Japanese individuals in the general population.
Prospective, observational cohort study.
One thousand thirty-seven Japanese patients were included in this study. Three hundred seven patients (614 eyes) had treatment-naïve CSC without choroidal neovascularization in either eye, whereas 730 individuals (1640 eyes) were Japanese individuals from the general population without explicit ocular diseases.
Pachydrusen were detected using color fundus photography, and subfoveal choroidal thickness was measured using OCT. Genotypic distributions of 3 single nucleotide polymorphisms, ARMS2 A69S, CFH I62V, and CFH Y402H, were evaluated.
Prevalence of pachydrusen and association with choroidal thickness.
The prevalence of pachydrusen was significantly higher among CSC patients than among the general population group (40.1% vs. 15.6%; P < 0.001). Individuals with pachydrusen in either group were significantly older than those without pachydrusen (CSC patients: 62.1 years vs. 48.8 years [P < 0.001]; general individuals: 70.3 years vs. 51.9 years [P < 0.001]). No significant difference was found in subfoveal choroidal thickness between those with and without pachydrusen (CSC patients: 370 μm vs. 375 μm; [P = 0.574]; general population: 297 μm vs. 303 μm [P = 0.521]). However, after adjusting for age, gender, and refractive error, subfoveal choroidal thickness was notably thicker in individuals with pachydrusen than that in individuals without pachydrusen in both groups (P = 0.003 and P = 0.013, respectively). No significant difference was found in genotype distributions between CSC patients with pachydrusen and those without it; whereas, the T allele frequency of ARMS2 A69S was higher in general population individuals with pachydrusen than that in general population individuals without pachydrusen (42.2% vs. 33.9%; P < 0.001; OR, 1.86, adjusted for age, gender, and choroidal thickness).
Pachydrusen was observed more frequently in CSC patients compared with individuals from the general population. In both groups, pachydrusen was associated with a thicker choroid, suggesting that pachydrusen should be considered as a significant sign of pachychoroid.
调查伴有中心性浆液性脉络膜视网膜病变（CSC）的眼和日本普通人群中厚盘状脉络膜病变的患病率及临床和遗传特征。
前瞻性观察性队列研究。
本研究纳入了 1037 名日本患者。307 名（614 只眼）患者患有未经治疗的治疗-naïve CSC，且双眼均无脉络膜新生血管；730 名个体（1640 只眼）为日本普通人群，无明确眼部疾病。
使用彩色眼底摄影术检测厚盘状脉络膜病变，使用 OCT 测量黄斑中心凹下脉络膜厚度。评估 ARMS2 A69S、CFH I62V 和 CFH Y402H 3 个单核苷酸多态性的基因型分布。
厚盘状脉络膜病变的患病率及其与脉络膜厚度的关系。
CSC 患者中厚盘状脉络膜病变的患病率明显高于普通人群（40.1% vs. 15.6%；P < 0.001）。两组中患有厚盘状脉络膜病变的个体均明显比不患有厚盘状脉络膜病变的个体年龄更大（CSC 患者：62.1 岁 vs. 48.8 岁[P < 0.001]；普通个体：70.3 岁 vs. 51.9 岁[P < 0.001]）。患有和不患有厚盘状脉络膜病变的个体之间黄斑中心凹下脉络膜厚度无显著差异（CSC 患者：370μm vs. 375μm[P = 0.574]；普通个体：297μm vs. 303μm[P = 0.521]）。然而，在校正年龄、性别和屈光不正后，两组中患有厚盘状脉络膜病变的个体的黄斑中心凹下脉络膜厚度明显比不患有厚盘状脉络膜病变的个体厚（P = 0.003 和 P = 0.013）。CSC 患者中患有和不患有厚盘状脉络膜病变的个体之间基因型分布无显著差异；然而，厚盘状脉络膜病变患者中 ARMS2 A69S 的 T 等位基因频率高于不患有厚盘状脉络膜病变的个体（42.2% vs. 33.9%；P < 0.001；调整年龄、性别和脉络膜厚度后，OR 为 1.86）。
与普通人群相比，CSC 患者中更常观察到厚盘状脉络膜病变。在两组中，厚盘状脉络膜病变与脉络膜增厚相关，表明厚盘状脉络膜病变应被视为厚脉络膜的一个重要标志。
