中华眼底病杂志

中华眼底病杂志

成人型卵黄样黄斑营养不良的临床特征及研究进展

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成人型卵黄样黄斑营养不良(AFVD)以视力逐渐下降、视网膜下卵黄样病灶及视网膜色素上皮萎缩为特征。眼电图通常正常或轻度下降。频域光相干断层扫描(OCT)检查可见卵黄样物质沉积于光感受器细胞层与视网膜色素上皮层之间,上方外核层变薄。OCT血管成像检查可见卵黄样物质沉积上方的浅层及深层视网膜毛细血管(DCP);脉络膜毛细血管血流减少,黄斑旁DCP血流增加。吲哚青绿血管造影早期可见卵黄样物质下脉络膜新生血管显影,晚期对应视网膜区域出现荧光素渗漏。对于AFVD,目前尚无有效治疗方法;单基因治疗是最值得期待的治疗方案。了解AFVD临床表现、多模式影像检查特征及治疗新进展有助于为临床诊断及治疗方案选择提供参考。

Adult-onset foveomacular vitelliform dystrophy (AFVD) is characterized by gradually loss of vision, subretinal vitelliform macular lesions and retinal pigment epithelium (RPE) atrophy. The electrooculogram (EOG) is usually normal or reduce slightly. On optical coherence tomography (OCT), there are vitelliform substance which deposited between the photoreceptor layer and the RPE layer, and thinner outer nuclear layer above these deposits. OCT angiography can show the superficial and deep retinal capillaries plexus (DCP) above the yolk-like deposits, the choroidal capillary blood flow is reduced and the DCP blood flow is increased near macular. On indocyanine green angiography (ICG), there is choroidal neovascularization under vitelliform substance at early stage and fluorescence leakage in the corresponding retinal region at late stage. There is no effective treatment for AFVD at present, monogenic gene therapy is the most worth looking forward to. Understanding AFVD clinical manifestations, multi-mode imaging features and new advances in treatment can provide a reference for diagnosis and treatment options

关键词: 卵黄状黄斑营养不良/诊断; 疾病特征; 综述

Key words: Vitelliform macular dystrophy/diagnosis; Disease attributes; Review

引用本文: 郭敬丽, 张勇进. 成人型卵黄样黄斑营养不良的临床特征及研究进展. 中华眼底病杂志, 2017, 33(4): 431-434. doi: 10.3760/cma.j.issn.1005-1015.2017.04.029 复制

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