Purpose To compare phenotypic and genetic variations in polypoidal choroidal vasculopathy (PCV) between Caucasian and Asian patients. Methods We analysed phenotypic and genotypic data from two sites, Association for Innovation and Biomedical Research on Light and Image, Portugal and Singapore National Eye Centre, Singapore. Baseline fundus photography, spectral domain-optical coherence tomography, indocyanine green and fluorescein angiography scans were analysed by respective reading centres using a standardised grading protocol. Single nucleotide polymorphisms across 8 PCV loci were compared between cases and controls selected from each population. Results One hundred and forty treatment-naïve PCV participants (35 Portuguese and 105 Singaporean) were included. The Portuguese cohort were older (72.33±8.44 vs 68.71±9.40 years, p=0.043) and were comprised of a lower proportion of males (43% vs 71%, p=0.005) compared with the Singaporean cohort. Differences in imaging features include higher prevalence of soft drusen (66% vs 30%, p=0.004), lower prevalence of subretinal haemorrhage (14% vs 67%, p<0.001), smaller polypoidal lesion (PL) area (0.09±0.09 vs 0.76±0.93 mm2, p<0.001), lower ratio of PL to branching vascular network area (3% vs 38%, p<0.001) and lower central retinal thickness (346.48±93.74 vs 493.16±212.92 µm, p<0.001) in the Portuguese cohort. CETP rs3764261 (OR 2.467; 95% CI 1.282 to 4.745, p=0.006) in the Portuguese population was significantly associated with PCV and CFH rs800292 (OR 1.719; 95% CI 1.139 to 2.596, p=0.010) in the Singaporean population, respectively. Conclusion Among Asian and Caucasian patients with PCV, there are significant differences in the expression of phenotype. We also identified different polymorphisms associated with PCV in the two populations.

中文翻译：

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亚洲和高加索人息肉状脉络膜血管病的 T 和遗传变异

目的比较白种人和亚洲患者息肉状脉络膜血管病（PCV）的表型和遗传变异。方法 我们分析了来自葡萄牙光与图像创新与生物医学研究协会和新加坡国家眼科中心这两个地点的表型和基因型数据。基线眼底摄影、光谱域光学相干断层扫描、吲哚菁绿和荧光素血管造影扫描由各自的阅读中心使用标准化分级协议进行分析。在从每个群体中选择的病例和对照之间比较了 8 个 PCV 基因座的单核苷酸多态性。结果包括 140 名未接受过 PCV 治疗的参与者（35 名葡萄牙人和 105 名新加坡人）。葡萄牙队列年龄较大（72.33±8.44 对 68.71±9.40 岁，p=0。043），与新加坡队列相比，男性比例较低（43% vs 71%，p=0.005）。影像学特征的差异包括软玻璃疣的患病率较高（66% vs 30%，p=0.004），视网膜下出血的患病率较低（14% vs 67%，p<0.001），息肉状病变（PL）面积较小（0.09±0.09） vs 0.76±0.93 mm2, p<0.001)，PL 与分支血管网络面积的比率较低 (3% vs 38%, p<0.001) 和中央视网膜厚度较低 (346.48±93.74 vs 493.16±212.92 µm, p<0.001)在葡萄牙队列中。葡萄牙人群中的 CETP rs3764261（OR 2.467；95% CI 1.282 至 4.745，p=0.006）分别与新加坡人群中的 PCV 和 CFH rs800292（OR 1.719；95% CI 1.139 至 2.596，p=0.010）显着相关. 结论 在亚洲和高加索人的 PCV 患者中，表型的表达存在显着差异。我们还确定了两个群体中与 PCV 相关的不同多态性。