Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Invest Ophthalmol Vis Sci. 2014 Apr 29;55(5):3223-30. doi: 10.1167/iovs.14-14059.
We describe the clinical and genetic characteristics of choroidal neovascularization (CNV) in eyes with choroidal vascular hyperpermeability (CVH).
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.
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).
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.
我们描述了脉络膜血管通透性增加(CVH)眼中脉络膜新生血管(CNV)的临床和遗传特征。
这项横断面研究包括 438 例连续接受黄斑疾病荧光素和吲哚青绿血管造影的患者。我们使用 1576 例年龄相关性黄斑变性(AMD)病例和 3248 例一般人群对照的基因型作为遗传关联分析的参考组。
在检查的 871 只眼(438 例患者)中,227 只眼(26.1%)发现 CVH。在这 227 只眼中,52 只眼(22.6%)在黄斑区有 CNV。在调整年龄后,CNV 眼与无 CNV 眼的患者中玻璃膜疣的比例和脉络膜厚度没有差异(P = 0.21 和 0.95)。在 52 只 CNV 眼中,51 只眼为 1 型 CNV,仅 1 只眼为纯 2 型 CNV。在 51 只 1 型 CNV 眼中,17 只眼(33.3%)观察到息肉样病变。CVH 和 1 型 CNV 患者的 ARMS2(A69S)和 CFH(I62V)基因型分布与 AMD 病例明显不同(P = 0.0014 和 0.0098),但与一般人群对照无差异(P = 0.33 和 0.82,统计效力分别为 88.5%和 72.9%)。
在 CVH 患者中,1 型 CNV 可能经常发生,有时伴有 2 型 CNV 或息肉样病变。就 ARMS2 和 CFH 而言,CVH 和 1 型 CNV 患者的遗传背景与 AMD 患者不同,但与日本一般人群相似。