高度近视(High myopia, HM)是致盲的主要病因之一。由于HM发病机制不清，迄今为止尚无有效的预防和治疗手段。因此，对HM的病因病理机制的研究较为迫切。。我们已收集12个HM家系、1000例HM患者和1500例对照样本，完成200例病例和400例对照的外显子组测序(Whole Exome Sequencing)，并经过扩大样本和在家系中验证，发现VPS13C基因可能为HM的致病基因。本项目在现有研究基础上，拟通过体外实验在细胞水平确定VPS13C相互作用蛋白，应用表达谱芯片鉴定因VPS13C下调或上调而表达变化的基因，揭示其在信号通路中的作用；通过体内实验，用斑马鱼和基因敲除小鼠模型研究VPS13C基因在高度近视发生过程的作用，进一步阐明高度近视发生的相关机理。

High myopia(HM) is one of the cause for blindness. So far, the pathogenesis of HM remains unknown, and there is no prevention and treatment available for HM. Therefore, it is very important to reveal the mechanism underlying pathogenesis of HM. We have collected 12 HM pedigrees，1000 HM cases and 1200 controls and analyzed 200 HM cases and 400 controls by whole exome sequencing. We identified a novel myopia-causing gene VPS13C after replication study. We propose to investigate the function of VPS13C by both cell bilology and molecualr biology to deterimine its role in cellular signal pathway. We will also assess its role in HM using zebrafish model and Knock-Out Mouse model to understand the mechanisms of HM. Our work will provide valuable information for development of theuraputical treatment for HM.