Masahiro Miyake 1 , 2 , Sotaro Ooto a , 1 , Kenji Yamashiro 1 , Ayako Takahashi 1 , Munemitsu Yoshikawa 1 , Yumiko Akagi-Kurashige 1 , Naoko Ueda-Arakawa 1 , Akio Oishi 1 , Hideo Nakanishi 1 , Hiroshi Tamura 1 , Akitaka Tsujikawa 1 , 3 , Nagahisa Yoshimura 1
06 November 2015
Pachychoroid neovasculopathy is a recently proposed clinical entity of choroidal neovascularization (CNV). As it often masquerades as neovascular age-related macular degeneration (AMD), it is currently controversial whether pachychoroid neovasculopathy should be distinguished from neovascular AMD. This is because its characteristics have yet to be well described. To estimate the relative prevalence of pachychoroid neovasculopathy in comparison with neovascular AMD and to investigate the phenotypic/genetic differences of the two diseases, we evaluated 200 consecutive Japanese patients who agreed to participate in the genetic study and diagnosed with pachychoroid neovasculopathy or neovascular AMD. Pachychoroid neovasculopathy was observed in 39 individuals (19.5%), which corresponds to one fourth of neovascular AMD. Patients with pachychoroid neovasculopathy were significantly younger ( p = 5.1 × 10 −5) and showed a greater subfoveal choroidal thickness ( p = 3.4 × 10 −14). Their genetic susceptibility to AMD was significantly lower than that of neovascular AMD; ARMS2 rs10490924 ( p = 0.029), CFH rs800292 ( p = 0.013) and genetic risk score calculated from 11 AMD susceptibility genes ( p = 3.8 × 10 −3). Current results implicate that the etiologies of the two conditions must be different. Thus, it will be necessary to distinguish these two conditions in future studies.