<i>CFH</i> and <i>VIPR2</i> as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy

Abstract

Significance Although central serous chorioretinopathy (CSC) presumptively shares pathophysiological basis with age-related macular degeneration (AMD), the CFH risk alleles for AMD are reportedly protective against CSC development. Our finding, that the CFH risk allele for AMD is protective against choroidal thickening in a Japanese cohort, indicates that CFH affects CSC development through its choroid-thickening effects rather than its association with AMD, highlighting the need for a new AMD classification, with CSC/pachychoroid-associated choroidal neovascularization as a distinct disease. Furthermore, our genome-wide association study (GWAS) addressing choroidal thickness successfully discovered a susceptibility gene for CSC: VIPR2 . Future GWASs on choroidal thickness will likely discover additional CSC susceptibility genes and provide key molecules to elucidate the pathophysiological difference between CSC and AMD.