Featured Articles in International Journal of Ophthalmology Vol.12 No.7, 2019

Basic Research

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


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。


Clinical Research

Imaging characteristics and surgical management of orbital neurilemmomas


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.




Intravenous glucocorticoids therapy in the treatment of Graves' ophthalmopathy: a systematic review and Meta-analysis

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.




Basic Research

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


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.



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