Polypoidal choroidal vasculopathy (PCV) exhibits subretinal and sub-pigment epithelial lesions, as wells as classic choroidal neovascularization. From a genetic point of view, variants of age-related maculopathy susceptibility 2 (ARMS2) A69S and CFH I62V are reported to be strongly associated with PCV. We investigated whether these two major genetic variants are associated with funduscopic manifestations of PCV. Although there was no association between CFH I62V variants and clinical expression in PCV, the risk variants of ARMS2 A69S were associated with subretinal hemorrhage, hemorrhagic pigment epithelial detachment (PED), and serous PED. Neither variant was associated with classic CNV. The mean onset age in bilateral patients was significantly lower than in unilateral patients. There was also a significantly higher frequency of risk variants in ARMS2 A69S in bilateral patients than in unilateral patients.
The risk variants of ARMS2 A69S were associated with hemorrhagic and sub-pigment epithelial lesions and with bilaterality. Genotyping of ARMS2 A69S is useful in understanding clinical features in PCV.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 117: 886-892, 2013.