{"title":"斯特奇-韦伯综合征继发性青光眼:从发病机理到治疗。","authors":"Tingli Wen, Lixiang Wang, Hongmei Luo, Li Tang","doi":"10.1186/s40662-025-00432-6","DOIUrl":null,"url":null,"abstract":"<p><p>Sturge-Weber syndrome (SWS) is a rare form of neurocutaneous disorder characterized by the involvement of neurologic, cutaneous and ocular problems. Among all SWS-related ocular abnormalities, glaucoma is the most common complication with a bimodal onset time. The occurrence of gene mutations in GNAQ has been identified as a cause of SWS. Recent studies have indicated that macrophages and mutations in GNA11 or GNB2 are also involved in the pathogenesis of SWS. Different mechanisms such as elevated episcleral venous pressure and focal venous hypertension can result in SWS secondary glaucoma (SG). In addition to glaucoma-related manifestations, SG may be associated with the typical site of facial port-wine birthmarks, choroidal vascular malformation and other ocular features. Medication and surgery are still the mainstay for SG. ROCK inhibitors have shown good performance in the control of intraocular pressure in SG but have not been verified in large sample populations. Due to the anatomical abnormalities, the incidence of surgical complications is higher. Non-penetrating surgical procedures, known for their safety and hypotensive characteristics, may be preferable instead. In general, the treatment of SG is a challenging undertaking. Early detection and treatment are crucial to preserve the visual function of patients with SWS. This review provides an overview of its pathogenesis, clinical manifestations, therapeutic agents, surgeries, and recent advances in the field of SG. The aim is to offer the latest perspectives and insights for the understanding and diagnosis of this disease.</p>","PeriodicalId":12194,"journal":{"name":"Eye and Vision","volume":"12 1","pages":"16"},"PeriodicalIF":4.1000,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004580/pdf/","citationCount":"0","resultStr":"{\"title\":\"Sturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment.\",\"authors\":\"Tingli Wen, Lixiang Wang, Hongmei Luo, Li Tang\",\"doi\":\"10.1186/s40662-025-00432-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Sturge-Weber syndrome (SWS) is a rare form of neurocutaneous disorder characterized by the involvement of neurologic, cutaneous and ocular problems. Among all SWS-related ocular abnormalities, glaucoma is the most common complication with a bimodal onset time. The occurrence of gene mutations in GNAQ has been identified as a cause of SWS. Recent studies have indicated that macrophages and mutations in GNA11 or GNB2 are also involved in the pathogenesis of SWS. Different mechanisms such as elevated episcleral venous pressure and focal venous hypertension can result in SWS secondary glaucoma (SG). In addition to glaucoma-related manifestations, SG may be associated with the typical site of facial port-wine birthmarks, choroidal vascular malformation and other ocular features. Medication and surgery are still the mainstay for SG. ROCK inhibitors have shown good performance in the control of intraocular pressure in SG but have not been verified in large sample populations. Due to the anatomical abnormalities, the incidence of surgical complications is higher. Non-penetrating surgical procedures, known for their safety and hypotensive characteristics, may be preferable instead. In general, the treatment of SG is a challenging undertaking. Early detection and treatment are crucial to preserve the visual function of patients with SWS. This review provides an overview of its pathogenesis, clinical manifestations, therapeutic agents, surgeries, and recent advances in the field of SG. The aim is to offer the latest perspectives and insights for the understanding and diagnosis of this disease.</p>\",\"PeriodicalId\":12194,\"journal\":{\"name\":\"Eye and Vision\",\"volume\":\"12 1\",\"pages\":\"16\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2025-04-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004580/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Eye and Vision\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s40662-025-00432-6\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Eye and Vision","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s40662-025-00432-6","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Sturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment.
Sturge-Weber syndrome (SWS) is a rare form of neurocutaneous disorder characterized by the involvement of neurologic, cutaneous and ocular problems. Among all SWS-related ocular abnormalities, glaucoma is the most common complication with a bimodal onset time. The occurrence of gene mutations in GNAQ has been identified as a cause of SWS. Recent studies have indicated that macrophages and mutations in GNA11 or GNB2 are also involved in the pathogenesis of SWS. Different mechanisms such as elevated episcleral venous pressure and focal venous hypertension can result in SWS secondary glaucoma (SG). In addition to glaucoma-related manifestations, SG may be associated with the typical site of facial port-wine birthmarks, choroidal vascular malformation and other ocular features. Medication and surgery are still the mainstay for SG. ROCK inhibitors have shown good performance in the control of intraocular pressure in SG but have not been verified in large sample populations. Due to the anatomical abnormalities, the incidence of surgical complications is higher. Non-penetrating surgical procedures, known for their safety and hypotensive characteristics, may be preferable instead. In general, the treatment of SG is a challenging undertaking. Early detection and treatment are crucial to preserve the visual function of patients with SWS. This review provides an overview of its pathogenesis, clinical manifestations, therapeutic agents, surgeries, and recent advances in the field of SG. The aim is to offer the latest perspectives and insights for the understanding and diagnosis of this disease.
期刊介绍:
Eye and Vision is an open access, peer-reviewed journal for ophthalmologists and visual science specialists. It welcomes research articles, reviews, methodologies, commentaries, case reports, perspectives and short reports encompassing all aspects of eye and vision. Topics of interest include but are not limited to: current developments of theoretical, experimental and clinical investigations in ophthalmology, optometry and vision science which focus on novel and high-impact findings on central issues pertaining to biology, pathophysiology and etiology of eye diseases as well as advances in diagnostic techniques, surgical treatment, instrument updates, the latest drug findings, results of clinical trials and research findings. It aims to provide ophthalmologists and visual science specialists with the latest developments in theoretical, experimental and clinical investigations in eye and vision.