Pachychoroid neovasculopathy and age-related macular degeneration.
Pachychoroid neovasculopathy and age-related macular degeneration.
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DOI：
10.1038/srep16204
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发表时间：
2015-11-06
影响因子：
4.6
通讯作者：
Yoshimura N
中科院分区：
文献类型：
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作者：
Miyake M;Ooto S;Yamashiro K;Takahashi A;Yoshikawa M;Akagi-Kurashige Y;Ueda-Arakawa N;Oishi A;Nakanishi H;Tamura H;Tsujikawa A;Yoshimura N
厚膜脉络膜新生血管病是最近提出的临床实体脉络膜新生血管（CNV）。由于它经常伪装成新生血管性年龄相关性黄斑变性（AMD），目前是否应将厚脉络膜新生血管病与新生血管性AMD区分开来仍存在争议。这是因为它的特点还没有得到很好的描述。为了评估厚膜脉络膜新生血管病变与新生血管性AMD的相对患病率，并研究这两种疾病的表型/遗传差异，我们评估了200例同意参加遗传研究并诊断为厚膜脉络膜新生血管病变或新生血管性AMD的日本患者。在39例患者（19.5%）中观察到厚脉络膜新生血管病变，相当于新生血管性AMD的四分之一。厚脉络膜新生血管病变患者明显年轻（p = 5.1 × 10−5），中心凹下脉络膜厚度更大（p = 3.4 × 10−14）。他们对AMD的遗传易感性显著低于新生血管性AMD; ARMS 2 rs 10490924（p = 0.029），CFH rs 800292（p = 0.013）和根据11个AMD易感基因计算的遗传风险评分（p = 3.8 × 10−3）。目前的结果表明，这两种情况的病因必须是不同的。因此，有必要在未来的研究中区分这两种情况。
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.