Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10⁻¹⁰ and 6.75 × 10⁻⁸, respectively). Case–control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10⁻⁵ and 5.14 × 10⁻⁵, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.

中枢浆液性脉络膜视网膜病变（CSC）是一种影响年轻人的常见疾病，可能导致视力丧失。CSC与年龄相关性黄斑变性（AMD）具有表型重叠。由于最近的研究表明CSC中脉络膜厚度的特征性增加，我们对3,418名个体的脉络膜厚度进行了全基因组关联研究，然后在2,692位受试者中进行了TaqMan测定，我们确定了两个易感基因座：CFH rs800292，既定的AMD易感性多态性和VIPR2 rs3793217（分别为P = 2.05×10 ^-10和6.75×10 ^-8）。使用CSC患者的病例对照研究证实了多态性与CSC之间的关联（P分别为5.27×10 ^-5和5.14×10 ^-5）。据报道，CFH rs800292 G等位基因是AMD的风险等位基因，而A等位基因则具有更厚的脉络膜和CSC发育的风险。这项研究不仅表明可以使用脉络膜厚度作为定义变量发现CSC的易感基因，而且可以加深对CSC和AMD病理生理学之间差异的了解。