Highlight Articles in Int J Ophthalmol Vol.13 No.11 2020

  

BASIC RESEARCH

Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma

 

Sangwoo Moon, Namhee Kim, Jiwoong Lee

 

This study aims to report the first discovery of Ser341Pro myocilin (MYOC) variant in Korea and analyze its clinical characteristics and genetic significance. Ten family members from three generations participated in this study and received the thorough ophthalmologic examination. Variant was analyzed according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines. The results show that the Ser341Pro variant is correlated with severe phenotype of primary open angle glaucoma (POAG). There are similar clinical aspects to previous studies: autosomal dominant inheritance, incomplete penetrance (62.50% and 66.67%), and proportion of patients requiring trabeculectomy (100% in both study). According to ACMG/AMP guidelines and the previous basic researches, the Ser341Pro variant had a “strong evidence of pathogenicity (PS3)” and then it could be interpreted to “pathogenic (PS3, PM1, PM2, PP2, PP3)”. Additionally, Ser341Pro variant can be reported as “c.1021T>C (p.Ser341Pro), likely pathogenic, POAG, autosomal dominant” according to guideline.

 

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原发性开角型青光眼Ser341Pro MYOC变异的韩国家系临床和基因分析

 

该研究报道韩国首次发现Ser341Pro myocilin (MYOC)变异,并分析了其临床特征和遗传学意义。研究共纳入一家系的三代10名家庭成员,并进行了全面的眼科检查。根据美国医学遗传学和基因组学学会和分子病理学协会(ACMG/AMP)指南对变异进行了分析。结果表明Ser341Pro变异与原发性开角型青光眼的严重程度表型相关。临床方面与以往研究相似:常染色体显性遗传、不完全外显率(62.50%66.67%)以及需要小梁切除术患者的比例(两项研究均为100%)。根据ACMG/AMP指南和以往的基础研究,Ser341Pro变异具有“强有力的致病性证据(PS3)”,也可以解释为“致病性(PS3PM1PM2PP2PP3)”。此外,根据指南,Ser341Pro变异可报告为“c.1021T>cp.Ser341Pro),可能致病,原发性开角型青光眼,常染色体显性”

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CLINICAL RESEARCH

Clinical features and changes of disease spectrum of zone II retinopathy of prematurity: a 10-year review

 

Ying-Qin Ni, Si-Si Xu, Ting Zhang, Xin Huang

 

The study aimed to report the clinical features and evolution of zone II retinopathy of prematurity (ROP). The detailed information about the disease spectrum and natural evolution of zone ROP were demonstrated. Zone II is an area with ROP disease at various risk levels. Zone II ROP has unique clinical presentations like popcorn and double track signs. Over time, the proportion of zone II ROP with high risk gradually decreased and responded well to therapy.

 

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早产儿视网膜病变Ⅱ区临床特征及疾病谱变化:10年回顾性分析

 

该研究旨在报告早产儿视网膜病变(ROPII区的临床特点和演变。作者对Ⅱ区ROP的疾病谱和其自然演化进行了详细的分析。II区是ROP疾病的多发区。IIROP具有独特的临床表现,如“爆米花现象”和双轨征。随着时间的推移,IIROP高危比例逐渐降低,对治疗反应良好。

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CLINICAL RESEARCH

Fourier-domain optical coherence tomography-guided phototherapeutic keratectomy for the treatment of anterior corneal scarring

 

Yu-Li Yang, Qian Jian, Bo Liu, Ke Wang, Yu-Juan Chen, Lian Tan, Mei-Jun Pu, Yong Liu

 

The study aimed to evaluate the safety, visual and anatomic outcomes of Fourier-domain optical coherence tomography (FD-OCT)-guided excimer laser phototherapeutic keratectomy (PTK) combined with photorefractive keratectomy (PRK) surgery in treating anterior corneal scarring, this study reviewed clinical data of twenty-three eyes of twenty-one patients between December 2014 and July 2016. In conclusion, FD-OCT-guided PTK combined with PRK is safe and effective for the treatment of anterior corneal scarring by eliminating or reducing corneal opacities.

 

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傅氏域光学相干断层辅助的治疗性角膜切削术治疗前角膜瘢痕

 

该研究评价FD-OCT辅助的准分子激光治疗性角膜切削术(PTK)联合屈光性角膜切削术(PRK)治疗前角膜瘢痕的安全性、视力和解剖学结果。研究回顾了201412月至20167月期间21名患者(23只眼)的临床资料。结论显示,FD-OCT引导下PTK联合PRK治疗前角膜瘢痕安全有效,可消除或减少角膜混浊。

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CLINICAL RESEARCH

Newer trends in tubercular uveitis: a case series with systemic correlation

 

Radha Annamalai, Meera Mohanakumar, Krishnima Raghu, M. Muthayya

 

This study determined the spectrum of uveitis, causes of visual loss in systemic tuberculosis (TB), role of investigations and outcome after anti-TB therapy (ATT). Case records of 250 patients with TB over 3y from April 2016 to May 2019 were analyzed. Systemic workup comprised of Mantoux, chest X-ray, polymerase chain reaction (PCR) and QuantiFERON (QFT) TB Gold. Aqueous humor analysis by nested PCR or real time PCR (RT-PCR) and ancillary ophthalmic investigations such as fundus fluorescein angiography, optical coherence tomography were performed. The results show a combination of investigations guided by clinical suspicion helps in precise diagnosis. In diagnostic dilemmas analysis of ocular samples is reliable and confirmatory. Screening all patients and a multidisciplinary approach in TB (active, healed or during treatment) is recommended.

 

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结核性葡萄膜炎的新趋势:系统相关性病例系列研究

 

该研究确定了葡萄膜炎的疾病谱,系统性结核病视力丧失的原因,临床调查的作用以及抗结核治疗后的结局。作者分析了20164月至20195月这3年中250例结核病患者的病例记录。系统检查包括Mantoux试验,胸部X光片,PCRQuantiFERON TB Gold检测。通过巢式PCRRT-PCR进行房水分析,并进行眼底荧光血管造影,光学相干断层扫描等辅助眼科检查。结果显示由临床疑似病例指导的联合调查有助于疾病的准确诊断。在遇到诊断困境时,对样本的分析是可靠和确证的。建议对所有患者进行筛查,并采用多学科的结核病(活动性,康复或治疗中)治疗方法。

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