斯特奇-韦伯综合征继发性青光眼:从发病机理到治疗。

IF 4.1 1区 医学 Q1 OPHTHALMOLOGY
Tingli Wen, Lixiang Wang, Hongmei Luo, Li Tang
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引用次数: 0

摘要

斯特奇-韦伯综合征(SWS)是一种罕见的神经皮肤疾病,其特征是累及神经、皮肤和眼部问题。在所有sws相关的眼部异常中,青光眼是最常见的并发症,具有双峰发病时间。GNAQ基因突变的发生已被确定为SWS的原因之一。最近的研究表明,巨噬细胞和GNA11或GNB2突变也参与了SWS的发病机制。不同的机制,如膜外静脉压升高和局灶性静脉高压可导致SWS继发性青光眼(SG)。除了青光眼相关的表现外,SG还可能与面部葡萄酒型胎记的典型部位、脉络膜血管畸形和其他眼部特征有关。药物和手术仍然是治疗SG的主要手段。ROCK抑制剂在控制SG患者眼压方面表现良好,但尚未在大样本人群中得到验证。由于解剖异常,手术并发症的发生率较高。非穿透性手术以其安全性和降压特性而闻名,可能是更好的选择。一般来说,SG的治疗是一项具有挑战性的工作。早期发现和治疗对于保护SWS患者的视觉功能至关重要。本文就其发病机制、临床表现、治疗药物、手术方法及近年来研究进展作一综述。其目的是为了解和诊断这种疾病提供最新的观点和见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Eye and Vision
Eye and Vision OPHTHALMOLOGY-
CiteScore
8.60
自引率
2.40%
发文量
89
审稿时长
15 weeks
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.
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