Basic Research

Novel mutation in OCRL leading to a severe form of Lowe syndrome

OCRL的新突变导致严重的Lowe综合征

Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu, Xu-Lin Zhang, Dong-Ni Wang, Mei-Mei Dongye, Hao-Tian Lin, Wei-Rong Chen

This study aimed to investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome.

A detailed clinical manifestation of a Chinese family with Lowe syndrome were collected and a complex mutation c.(2368_2368delG;c.2370A>C) in the Rho-GTPase activating protein domain in OCRL1 gene was identified by Directional Sanger sequencing. These findings expand the phenotypic and genotypic spectrum of Lowe syndrome in an unreported ethnic background.

改研究旨在探讨X连锁隐性遗传病Lowe综合征的患者家族中的表型和基因型。作者详细收集了一例中国Lowe综合征家庭的临床表现, 并在OCRL1基因Rho-GTPase激活蛋白结构域中发现了一种复杂的突变c.(2368_2368delG;c.2370A>C). 该研究结果在新的种族背景下扩展了Lowe综合征的表型和基因型谱。

http://www.ijo.cn/en_publish/2019/7/20190701.pdf

Clinical Research

Imaging characteristics and surgical management of orbital neurilemmomas

眼眶神经鞘瘤的影像学特征及手术治疗

Ming-Hao Chen, Jian-Hua Yan

Orbital neurilemmoma is a slow growing benign tumor which occurs mostly in adults (average=40.0y). Effective diagnosis requires a combination of ultrasonography, CT and/or MRI.These imaging techniques are also vital to differentiate neurilemmomas from other orbital masses like that of cavernous hemangiomas and meningiomas. Successful treatment requires complete resection of the neurilemmomas as performed either by lateral or anterior orbitotomy. Recurrence is rare after complete removal.

眼眶神经鞘瘤是一种生长缓慢的良性肿瘤，多发于成人(平均年龄40.0岁)，有效的诊断需要结合超声检查、CT和/或磁共振。这些成像技术对于区分神经鞘瘤和其他眼眶肿块，如海绵状血管瘤和脑膜瘤至关重要。成功的治疗需要完全切除神经鞘瘤，无论是外侧或前部眼眶切开，完全切除后很少复发。

http://www.ijo.cn/en_publish/2019/7/20190709.pdf

Meta-analysis

Intravenous glucocorticoids therapy in the treatment of Graves' ophthalmopathy: a systematic review and Meta-analysis
静脉注射糖皮质激素治疗Graves眼病:系统回顾和Meta分析

Li-Quan Zhao, Dan-Yang Yu, Jin-Wei Cheng

This study conducted the systematic review and Meta-analysis of randomized clinical trials comparing high-dose intravenous glucocorticoids (IVGC) for the treatment of Graves' ophthalmopathy (GO), with placebo or other treatments. The current evidence is moderate quality, which is sufficient to support IVGC to be as the first-line treatment formoderate-to-severe GO, and the use of rituximab or mycophenolate mofetil to be the second-line treatment instead of IVGC. However, the evidence is very low quality, which is insufficient to support the use of IVGC or orbital decompression as the first-line treatment of dysthyroid optic neuropathy.

该研究对随机临床试验进行了系统回顾和Meta分析，比较了高剂量静脉注射糖皮质激素与安慰剂或其他治疗方案治疗Graves眼病的疗效。目前的证据足以证明，高剂量静脉注射糖皮质激素可作为中度至重度Graves眼病的一线治疗，而利妥昔单抗或霉酚酸酯可代替高剂量静脉注射糖皮质激素作为二线治疗。然而，证据不足以支持高剂量静脉注射糖皮质激素或眼眶减压术作为甲状腺功能障碍性视神经病变的一线治疗。

http://www.ijo.cn/en_publish/2019/7/20190720.pdf

Basic Research

Reactive oxygen species mediates a metabolic memory of high glucose stress signaling in bovine retinal pericytes

活性氧在高糖诱导的牛视网膜周细胞代谢记忆中的作用

Li-Wei Zhang, Han Zhao, Bai-Hua Chen

The study aimed to investigate the role of reactive oxygen species and antioxidant mechanism underlying the metabolic memory of bovine retinal pericytes (BRPs) induced by high glucose. The authors observed the changes of BRPs activities under high glucose exposure in vitro and investigated the roles of reactive oxygen species in pericytes injury. Then they utilized gene therapy to increase the expression of MnSOD in BRP in vitro, and evaluated their therapeutic efficiency on diabetic retinopathy. It is a new therapeutic method to decrease BRPs apoptosis and reverse hyperglycemic memory and rAAV-MnSOD gene therapy provides a promising strategy to inhibit this blinding disease.

该研究旨在探讨高糖诱导的牛视网膜周细胞(BRP)代谢记忆中活性氧的作用及其抗氧化机制。作者观察到体外高糖暴露下BRPs活性的变化，探讨了活性氧在周细胞损伤中的作用，其利用基因治疗提高体外BRP中MnSOD的表达，评价其治疗糖尿病视网膜病变的疗效。新的治疗方法能够降低BRPs凋亡和逆转高血糖记忆，且rAAV-MnSOD基因治疗为抑制这一致盲疾病提供了一种有效措施。

http://www.ijo.cn/en_publish/2019/7/20190703.pdf