Choroidal Neovascularization in Eyes With Choroidal Vascular Hyperpermeability

PURPOSE. We describe the clinical and genetic characteristics of choroidal neovascularization (CNV) in eyes with choroidal vascular hyperpermeability (CVH). METHODS. This cross-sectional study consisted of 438 consecutive patients who underwent fluorescein and indocyanine green angiography for macular disease. We used the genotypes of 1576 age-related macular degeneration (AMD) cases and 3248 general population controls as reference groups for genetic association analyses. RESULTS. Of 871 eyes (438 patients) examined, CVH was found in 227 eyes (26.1%). Of these 227 eyes, 52 (22.6%) had CNV in the macular area. The proportion of patients with drusen and the choroidal thickness were not different between eyes with and without CNV, after adjusting for age (P = 0.21 and 0.95). Of the 52 eyes with CNV, 51 had type 1 CNV and only one eye had pure type 2 CNV. Of the 51 eyes with type 1 CNV, polypoidal lesions were observed in 17 eyes (33.3%). Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significantly differed from those of AMD cases (P = 0.0014 and 0.0098, respectively), but not from general population controls (P = 0.33 and 0.82, statistical power of 88.5% and 72.9%, respectively). CONCLUSIONS. In patients with CVH, type 1 CNV may occur frequently and sometimes accompanies type 2 CNV or polypoidal lesions. In terms of ARMS2 and CFH, genetic background of patients with CVH and type 1 CNV was different from those with AMD, but rather similar to the general Japanese population.