Exploration Of Eye Vasuclar Malformations And Diagnosis-Treatment Modes In Sturge-Weber Syndrome Induced Glaucoma

Sturge-Weber Syndrome(SWS)is a rare,sporadically occurring,congenital neurotaneous disorder characterized by capillary-venous malformations;its incidence is estimated to be between 1 in 20000 and 1 in 50000.Thus,SWS is a rare syndrome involving the "skin-central nervous system-eye" three systems.Among all SWS-related ocular complications,the most common is glaucoma,which affects 48%-71% of SWS patients.All the glaucomatous eyes are in the ipsilateral eyes of the facial port-wine stain.According to the presentation of glaucoma in SWS patients,the following bimodal phenomenon has been shown: 60% developed glaucoma in infancy when the eyes were susceptible to increased IOP and became buphthalmic and 40% developed glaucoma in late childhood or early adulthood.Because the SWS is extremely rare,researchers are very difficult to complete the collection of case data,so the study of SWS secondary glaucoma is currently very limited and has not yet formed a system.Thankfully,a large number of patients with facial vascular malformations came to our hospital to seek treatment because of the very distinct academic strengths of the author’s medical center.In view of this,we established a collaborative referral and screening system for SWS secondary glaucoma with the Reconstruction Surgery Department.In recent years,we collected a total of more than 100 cases of SWS secondary glaucoma,as far as we know,the cases number are highest in the world.This advantage provides a good condition for the study of the syndrome.The purpose of this study is to explore the onset characteristics and effective treatment of SWS secondary glaucoma from the perspective of the vascular malformations of SWS secondary glaucoma and the evaluation of the efficacy of anti-glaucoma surgery to improve the understanding of the disease and further the pathogenesis.In order to lay the foundation for the further pathogenesis exploration,evidence-based diagnosis and treatment.SWS secondary glaucoma ocular vascular malformations related research is divided into three parts to elaborate:(1)Secondary glaucoma screening in patients with eyes close to areas affected by port-wine stain;(2)Scleral surface vascular malformations and GNAQ somatic mutations;(3)Evaluation of choroidal hemangiomas by EDI-OCT in SWS secondary glaucoma patients.The following conclusions are drawn: the incidence of secondary glaucoma in patients with eyes close to areas affected by port-wine stain is high;For the first time,GNAQ somatic mutations were found in the scleral surface vascular malformations in SWS secondary glaucoma patients;EDI-OCT distinguishes choroidal hemangiomas from SWS secondary glaucoma and can help evaluate the risk of late-stage complications after glaucoma surgery.Surgical evaluation of SWS secondary glaucoma focuses on trabeculotomy and a new type of filtration surgery—Ex-PRESS implantation.Early trabeculotomy ab externo was safe and led to good intermediate-term surgical outcomes for early-onset glaucoma in SWS patients.Ex-PRESS implantation can effectively reduce IOP in SWS patients with secondary glaucoma,but the incidence of exudative retinal detachment is high.