家族性渗出性玻璃体视网膜病变（FEVR）是一种严重的视网膜血管发育异常的遗传性眼睛疾病。该病的发病原因复杂，遗传因素在该病的发病过程中起关键作用，目前已经发现至少5个基因的突变可导致FEVR：NDP, FZD4， LRP5，TSPAN12和ZNF408。然而，这些突变只能解释约50%的FEVR病例，且对FEVR发病的具体分子机制尚不清楚。因此，寻找新的致病基因，并深入研究其致病机制，对FEVR的临床诊断和干预极其重要。通过前期的家系分析、测序验证及动物模型构建，我们初步确定了JAG1基因的突变可导致FEVR，然而，其具体的致病分子机制尚不明确。因此，本研究拟在前期研究的基础上，通过细胞和动物实验，研究JAG1基因与视网膜血管发育的关系，最终阐明JAG1突变具体的致病分子机制。本课题的实施，可为FEVR的分子诊断和基因治疗提供新的理论依据。

Familial exudative vitreoretinopathy (FEVR) is a severe inherited retina disease, which characterized by incomplete retina development and angiogenesis. The causative reasons for FEVR is complex, studies have shown that genetic factors play a key role in the pathogenesis of the disease. To data, mutations in at least five genes can lead to FEVR: NDP, FZD4, LRP5, TSPAN12 and ZNF408. However, these known mutations can only explain about half of the FEVR case, and the specific molecular mechanisms of pathogenesis of FEVR still unclear. Therefore, the search for new disease-causing mutation or genes, and illustrate the pathogenic mechanism of FEVR is of extremely important for clinical diagnosis and intervention. Through preliminary pedigree analysis, sequencing validation and animal model construction, we initially identified the JAG1 gene mutation can lead to FEVR; however, the specific pathogenic molecular mechanism is still to be solved. This study intends to study the relationship between JAG1 gene and retinal vascular development through cell and animal experiments, and finally elucidate the specific pathogenic molecular mechanism of JAG1 mutation.The implementation of this project can provide a new theoretical basis for the molecular diagnosis and gene therapy of FEVR.