Sturge-Weber综合征（SWS）继发性青光眼眼压升高的重要原因是巩膜上静脉压升高，但其机制尚未阐明。我们预实验中发现SWS继发性青光眼患者巩膜表层存在异常增殖并相互沟通成网状的血管，其中可观察到房水引流，经取材、测序后首次发现了该疾病患者的巩膜表层血管组织存在GNAQ基因c.548G→A体细胞突变，与已报道的SWS皮肤及软脑膜病变中的突变位点相同。本研究拟提出SWS继发性青光眼巩膜表层血管存在动静脉瘘造成上巩膜静脉压升高的假说。拟探索GNAQ突变导致的MAPK/ERK通路异常激活在巩膜表层血管畸形中的作用机制：阐明MAPK/ERK通路异常激活在静脉内皮异常增殖的影响，构建巩膜血管原位GNAQ突变小鼠模型在体验证上巩膜静脉压升高形成的机制，借此明确巩膜表层血管畸形在SWS继发性青光眼房水引流途径中的重要作用，以期推进SWS继发性青光眼发病机制研究的进展，为该疾病的治疗提供新靶点。

The pathogenesis of Sturge-Weber syndrome (SWS) secondary glaucoma is episcleral venous pressure elevation, but the mechanism remains unclear. In our preliminary experiment, we found that SWS secondary glaucoma patients had abnormal scleral vessels with abnormal cell proliferation and reticular form.We observed the drainage of aqueous humor in the vessels. After harvesting and sequencing, the GNAQ gene c.548G→A somatic mutation was found in the scleral surface vascular tissues of patients with this disease for the first time. The mutation is the same as the mutation site in the skin and leptomeningeal lesions that have been reported before. This study proposes and validates the hypothesis that there is an arteriovenous fistula in the scleral superficial blood vessels of SWS patients with secondary glaucoma, which leads to an increase in the episcleral venous pressure, and explores the mechanism of abnormal activation of the MAPK/ERK pathway in the scleral vascular malformation caused by GNAQ mutation. To elucidate the effect of abnormal activation of MAPK/ERK pathway on abnormal proliferation of venous endothelium, and to establish a scleral vascular in situ GNAQ mutant mouse model to verify the mechanism of scleral venous pressure elevation in SWS secondary glaucoma, thereby confirming the scleral vascular malformation play an important role in the drainage of aqueous humor in patients with glaucoma. By doing these, we hope to advance the research on the pathogenesis of secondary glaucoma in SWS, and provide new ideas for the treatment of this disease.