Basic Research

Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China

中国北方两个先天性晶状体脱位家系的FBN1基因突变分析

Su-Zhen Tang, Ya-Ning Liu, Shao-Hua Hu, Hao Chen, Hui Zhao, Xue-Mei Feng, Xiao-Jing Pan, Peng Chen

Congenital ectopia lentis (EL) is genetically and phenotypically heterogeneous. This study is to summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1 (FBN1) gene responsible for congenital EL in two Chinese families in northern China. A novel insertion deletion mutation (c.2420-IVS20-8delTCTGAAACA insCGAAAG, a heterozygous mutation) in FBN1 gene in FAMILY-1 with congenital EL and a known point mutations (c.1633C>T) was identified. The results will provide a theoretical basis for expanding the spectrum of congenital EL and clarifying the relationship between EL genotype and phenotype.

先天性晶状体脱位是一种遗传型和表型异质性疾病，该研究旨在总结中国北方地区两个家系中导致先天性晶状体脱位的FBN1基因的表型特征，并找出其潜在的遗传原因。在先天性晶状体脱位家系-1的FBN1基因中发现了一个新的插入/缺失突变(c.2420-IVS20-8delTCTGAAACA insCGAAAG，一个杂合子突变)和一个已知的点突变(c.1633c>t)，这一结果将为进一步扩大先天性晶状体脱位基因谱并阐明晶状体脱位基因型与表型的关系提供了理论依据。

http://www.ijo.cn/en_publish/2019/11/20191102.pdf

Investigation

iTRAQ-based proteomics analysis of aqueous humor in patients with dry age-related macular degeneration
基于同位素标记的干性年龄相关性黄斑变性患者房水蛋白质组学分析

Si-Chang Qu, Ding Xu, Ting-Ting Li, Jing-Fa Zhang, Fang Liu
This study preliminarily tested proteomics in aqueous humor in patients with dry age-related macular degeneration (AMD) by using the proteomic technology. The bioinformatics analysis showed that dry AMD is closely associated with inflammation or immune reaction, oxidative stress, blood coagulation and remodeling of extracellular matrix. iTRAQ-based proteomic analysis of aqueous humor demonstrated the differential expressions of proteins between dry AMD and control groups, providing the clues to understand the mechanisms and possible treatments of dry AMD.

该研究利用蛋白质组学技术，对干性年龄相关性黄斑变性患者的房水蛋白质组学进行了初步研究。生物信息分析表明，干性年龄相关性黄斑变性与炎症或免疫反应、氧化应激、凝血和细胞外基质重构密切相关。基于同位素标记的房水蛋白组学分析显示干性年龄相关性黄斑变性和对照组之间的蛋白表达有差异，为了解干性年龄相关性黄斑变性的机制和可能的治疗提供了线索。

http://www.ijo.cn/en_publish/2019/11/20191115.pdf

Clinical Research

Comparison of contrast sensitivity based on the surgical results for intermittent exotropia
基于间歇性外斜视手术结果的对比敏感度比较

Hae Rang Kim, Soo Jung Lee

Intermittent exotropia is the most prevalent form of strabismus in Korea and photophobia is a common symptom accompanied in intermittent exotropia, mechanism of which has not been elucidated. The contrast sensitivity test is a method for displaying the spatial resolution of the visual system, the results of which could be abnormal in various diseases including amblyopia, optic neuritis, cataract, glaucoma, strabismus, brain lesion, etc. Some studies have reported subjective photophobia patterns and conducted contrast sensitivity in intermittent exotropia to evaluated changes in photophobia. Still, no study has examined the change of contrast sensitivity and its relationship with photophobia according to the results of strabismus study. The study was to compare the change of contrast sensitivity and evaluate the relation of contrast sensitivity and photophobia in intermittent exotropia based on the result of strabismus correction surgery. Subjective photophobia had significant correlation with contrast sensitivity under photopic conditions, and may be used as an objective indicator of photophobia.

间歇性外斜视是韩国最常见的斜视类型，畏光是间歇性外斜视的常见症状，其发病机制尚未阐明。对比敏感度试验是一种显示视觉系统空间分辨率的方法，其结果在弱视、视神经炎、白内障、青光眼、斜视、脑损伤等多种疾病中都可能出现异常。一些研究报道了间歇性外斜视的主观畏光模式和对比敏感度，以评估畏光的变化，然而，没有研究根据斜视研究的结果来检验对比敏感度的变化及其与畏光的关系。该研究根据斜视矫正手术结果，比较间歇性外斜视患者对比敏感度的变化，评价对比敏感度与畏光的关系。在光适应条件下，主观畏光与对比敏感度有显著相关性，可作为客观的畏光指标。

http://www.ijo.cn/en_publish/2019/11/20191110.pdf

Review Article

Potential of video games for the promotion of neuroadaptation to multifocal intraocular lenses: a narrative review
视频游戏促进多焦点人工晶状体植入术后神经适应的研究进展

María Begoña Coco-Martin, Pedro L. Valenzuela, Miguel J. Maldonado-López, Alejandro Santos-Lozano, Ainhoa Molina-Martín, David P Piñero

The study aimed to summarize the evidence on the potential effectiveness of video games for the promotion of neuroadaptation in the general population as well as in individuals with vision impairment, as well as to describe the characteristics of those video games that have shown beneficial effects. For this purpose, the authors performed a non-systematic review in PubMed using the terms “video games” or “computerized cognitive training” and terms such as brain plasticity, neuroplasticity, neuroadaptation, cognition, visual acuity, vision, visual impairment, cataract or amblyopia. Reference lists of relevant articles and reviews were also examined to find additional publications on the topic. The results showed that clinical trials are needed to provide more consistent evidence of the use of this type of training with video games in eyes implanted with multifocal intraocular lenses.

该研究旨在总结视频游戏对促进普通人群和视力受损人群神经适应的潜在有效性的证据，并总结有益效果的视频游戏的特征。作者在PubMed上使用“video games”或“computerized cognitive training”等术语，以及大脑可塑性、神经可塑性、神经适应、认知、视力、视力障碍、白内障或弱视等术语进行非系统性的回顾，并对相关文章的参考文献进行检索，以查找关于这个主题的其它文献。结果表明，在植入多焦点人工晶状体的患者使用视频游戏进行此类训练需要进一步的临床试验以提供更一致的证据。

http://www.ijo.cn/en_publish/2019/11/20191118.pdf