家族性渗出性玻璃体视网膜病变（Familial exudative vitreoretinopathy ，FEVR）是一类严重的遗传性视网膜疾病，主要表现为视网膜血管发育不完全和异常新生血管，常发病于小儿且致盲率极高。目前FEVR的致病机制尚未完全明确，这使该病的预防和诊疗困难重重。在前期研究中，我们发现了CDH1基因的3个突变，提示该基因可能是FEVR致病基因。为了深入研究其致病机制，我们构建了Tamoxifen诱导的全身敲除和周皮细胞特异性敲除小鼠模型，较好地模拟了FEVR的表型。本课题拟在前期研究基础上，通过转录组测序和蛋白质组学联合分析，结合细胞生物学实验手段，利用小鼠视网膜、小鼠周皮细胞和人源周皮细胞，阐明CDH1在血管发育过程中的作用，揭示其突变导致FEVR的分子机制。本课题的顺利开展，有望为FEVR的预防、诊断以及治疗手段的开发提供新的理论基础，具有重要的科学意义和临床价值。

Familial exudative vitreoretinopathy (FEVR) is a severe hereditary retinal disease characterized by incomplete vascularization and abnormal neovascularization, which commonly occurs in children with high rate of blindness. At present, the pathogenesis of FEVR is not completely understood, which makes the prevention, diagnosis and treatment of FEVR difficult. In previous study, we found three mutations in CDH1 gene, suggesting that CDH1 may be a pathogenic gene in FEVR. In order to explore the pathogenic mechanism of CDH1 mutations, we constructed Tamoxifen-induced global inactivation of Cdh1 knockout mouse models and pericyte-specific inactivation of Cdh1 mouse models, and both of them successfully reproduced the phenotypes of FEVR. Based on previous research, we intend to utilize mouse pericytes and human pericytes, through a combination of transcriptional sequencing and proteome analysis, with cell biology experiments, to clarify the function of CDH1 in vascular development and reveal the molecular mechanism of CDH1 mutations on FEVR. This research might provide new theoretical basis for the prevention, diagnosis and treatment of FEVR, which has scientific significance and clinical value.