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The incidence of high myopia is increasing worldwide with myopic maculopathy, a complication of myopia, often progressing to blindness. Our two-stage genome-wide association study of myopic maculopathy identifies a susceptibility locus at rs11873439 in an intron of  CCDC102B  ( P  = 1.77 × 10 −12  and  P  corr  = 1.61 × 10 −10 ). In contrast, this SNP is not significantly associated with myopia itself. The association between rs11873439 and myopic maculopathy is further confirmed in 2317 highly myopic patients ( P  = 2.40 × 10 −6  and  P  corr  = 1.72 × 10 −4 ).  CCDC102B  is strongly expressed in the retinal pigment epithelium and choroids, where atrophic changes initially occur in myopic maculopathy. The development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of  CCDC102B  in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia.

CCDC102B confers risk of low vision and blindness in high myopia