Outcomes of 4 surgical adjuvants used for internal limiting membrane peeling in macular hole surgery: a systematic review and network Meta-analysis

AIM:To compare the outcomes of four adjuvants used for internal limiting membrane(ILM)peeling in macular hole surgery,including indocyanine green(ICG),brilliant blue G(BBG),triamcinolone(TA)and trypan blue(TB),through systematic review and random-effects Bayesian network Meta-analysis.METHODS:PubMed,Cochrane library databases and Web of Science were searched until August 2018 for clinical trials comparing the above four adjuvants.ORs for postoperative best corrected visual acuity(BCVA)improvement and primary macular hole closure rates were compared between the different adjuvants.RESULTS:Twenty-seven eligible articles were included.For postoperative BCVA improvement,results of BBGassisted peeling were significantly more favorable than those of ICG(WMD 0.08,95%credible interval 0.01-0.16)and TA ranked highest.No significant differences were found between any other two groups in postoperative BCVA improvement.For postoperative primary macular hole closure rates,BBG ranked highest.However,no significant differences were shown between any two groups.CONCLUSION:TA and BBG are the optimum adjuvants for achieving postoperative BCVA improvement macular hole surgery with adjuvant-assisted ILM peeling.Among all adjuvants,the use of BBG is associated with the highest postoperative macular hole closure rate.

Virtual reality training improves accommodative facility and accommodative range

AIM: To evaluate the effects of virtual reality(VR) training on different parameters of vision.METHODS: Sixty individuals ranged 18-60 years old with asthenopia were randomly divided into short-term(n=40) and long-term(n=20) treatment groups. They were given a specially designed VR training device only once for 15 min or 3-4 times a day for 15 min each time for 1 mo. The visual acuity, spherical equivalent, accommodative range, accommodative facility, pupil size, and visual fatigue were evaluated before(control) and after VR training. RESULTS: The visual acuity, accommodative range, and accommodative facility increased in subjects of the shortterm treatment group, whereas their pupil size contracted significantly. No significant changes in spherical equivalent and visual fatigue were observed. The changes in distant vision and corrected visual acuity were positively correlated with those in pupil size, but not with spherical equivalent. The accommodative range and accommodative facility improved significantly in subjects of the long-term treatment group. No significant changes in visual acuity, spherical equivalent, pupil size, and visual fatigue were noted. CONCLUSION: VR training can improve the accommodative range and accommodative facility of human eyes. Although short-term VR training can transiently improve vision, which probably due to bright light adaptation, there is no evidence that it can improve myopia.

MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR

Objective:Leber's hereditary optic neuropathy (LHON) is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA (mtDNA). Many unsolved questions regarding the penetrance and patho-physiological mechanism of LHON demand efficient and reliable mutation testing. This study aims to develop a minor groove binder (MGB) probe assay for rapid detection of mtDNA11778 mutation and heteroplasmy in Chinese LHON patients by real-time polymerase chain reaction (PCR). Methods: Forty-eight patients suspected of having LHON and their maternal relatives underwent a molecular genetic evaluation, with 20 normal individuals as a control group at the same time. A real-time PCR involving two MGB probes was used to detect the mtDNA11778 mutation and heteroplasmy. A linear standard curve was obtained by pUCmLHONG and pUCmLHONA clones. Results: All 48 LHON patients and their maternal relatives were positive for mtDNA11778 mutation in our assay, 27 heteroplasmic and 21 homoplasmic. Eighteen cases did not show an occurrence of the disease, while 9 developed the disease among the 27 heteroplasmic mutation cases. Eleven did not show an occurrence of the disease, while 10 cases developed the disease among 21 homoplasmic mutation cases. There was a significant difference in the incidence between the heteroplasmic and the homoplasmic mutation types. The time needed for running a real-time PCR assay was only 80 min. Conclusion: This real-time PCR assay is a rapid, reliable method for mtDNA mutation detection as well as heteroplasmy quantification. Detecting this ratio is very important for predicting phenotypic expression of unaffected carriers.

A Meta-analysis of the association between different genotypes(G11778A, T14484C and G3460A ) of Leber hereditary optic neuropathy and visual prognosis

AIM：To analyze the influences of different genotypes（G11778A,T14484 C and G3460A） of Leber hereditary optic neuropathy（LHON） on visual prognosis. METHODS： After a systematic literature search,all relevant studies evaluating the association between the three primary mutations of LHON and visual prognosis were included.All statistical tests were calculated with Revman 5.2 and STATA 12.0. RESULTS： Ten independent studies were included finally.A significant association between the three primary mutations and prognostic vision over 0.3 were found in G11778 A versus T14484 C [odds ratio（OR） =0.10,95% confidence interval（CI） =0.05-0.17,P 〈0.001],G11778 A versus G3460A（OR=0.18,95%CI=0.09-0.37,P 〈0.001） and T14484 C versus G3460A（OR =2.45,95% CI =1.10-5.48,P 〈0.05）.In addition,obtained by pairwise comparison,the vision during onset,age of onset and sex ratio of these three kinds of patients,have no statistical significance（P 〉0.05）.CONCLUSION： From pairwise comparison,we conclude that these three different genotypes of LHON are related to patients＇ visual prognosis.The T14484 C patients might have a best prognostic vision,G3460 A second,and G11778 A worst.And there is little relation between the three different genotypes and patients＇ vision,age of onset and sex ratio.

Spectral-domain optical coherence tomography dynamic changes and steroid response in multiple evanescent white dot syndrome

Dear Editor,Multiple evanescent white dot syndrome （MEWDS） was first described in 1984 as a rare, acute, unilateral,multifocal retinochoroidal disorder, typically affecting young myopic women. Previous studies with fluorescein angiography （FA） and electrophysiology suggested that MEWDS to be a disease in the retinal pigment epithelium （RPE） or outer retina, while recent studies with spectral- domain optical coherence tomography （SD-OCT） suggested it may be an outer retinal disease due to observation of hyperreflective material in outer retina and subtle disruptionsof the ellipsoid zone without RPE disruption.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

In this paper,we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced,OMIM No.601692) gene-linked corneal dystrophy.Altogether,five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were recruited.Peripheral venous DNA was extracted,and then amplified by polymerase chain reaction (PCR) and scanned for mutation by single-stranded conformation polymorphism (SSCP).Direct DNA sequencing was used to analyze the mutations of the TGFBI gene.In our study,thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I),Avellino corneal dystrophy (ACD),lattice corneal dystrophy type I (LCD I),and lattice corneal dystrophy type ⅢA (LCD IIIA),and in total,seven disease-causing mutations,namely R555W,A546D,A546T,and T538P mutations in exon 12,R124H and R124C mutations in exon 4,and P501T mutation in exon 11,were identified,while four polymorphisms of V327V,L472L,F540F,and 1665-1666insC were screened in exons 8,11,and 12.The study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of four TGFBI gene-linked corneal dystrophies.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

In this paper,we report the clinical and molecular features of the distinct TGFBI(human transforming growth factor β-induced,OMIM No.601692) gene-linked corneal dystrophy.Altogether,five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were recruited.Peripheral venous DNA was extracted,and then amplified by polymerase chain reaction(PCR) and scanned for mutation by single-stranded conformation polymorphism(SSCP).Direct DNA sequencing was used to analyze the mutations of the TGFBI gene.In our study,thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I(GGCD I),Avellino corneal dystrophy(ACD),lattice corneal dystrophy type I(LCD I),and lattice corneal dystrophy type IIIA(LCD IIIA),and in total,seven disease-causing mutations,namely R555W,A546D,A546T,and T538P mutations in exon 12,R124H and R124C mutations in exon 4,and P501T mutation in exon 11,were identified,while four polymorphisms of V327V,L472L,F540F,and 1665-1666insC were screened in exons 8,11,and 12.The study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of four TGFBI gene-linked corneal dystrophies.

临床表型-基因型关联发现Leber先天性黑矇(LCA)家系新的RDH12基因复合杂合突变（英文）

目的:临床表型-基因型关联分析筛查Leber先天性黑矇(LCA)家系候选基因,确定其分子遗传病因。创新点:成功应用临床表型-基因型关联分析鉴定LCA家系致病基因,并发现新的RDH12基因复合杂合突变。方法:收集一个中国常染色体隐性遗传三代LCA家系,详细分析该家系眼部表型特征(图1和表1),经临床表型-基因型关联分析确定RDH12为候选基因。Sanger测序发现新的RDH12基因复合杂合突变(图2),目标序列捕获高通量测序技术排除其他已知LCA相关基因(表2)。该家系成员基因型显示完整的共分离(图3),同时在600例普通人群中未发现该突变。结论:RDH12基因复合杂合突变可能为该LCA家系的致病基因,临床表型-基因型关联分析在LCA分子遗传学诊断中有重要价值。

全外显子组测序发现一个中国Nance-Horan综合征家系NHS基因的新突变(英文)

研究目的:通过对一个中国Nance-Horan综合征家系的临床表型及基因突变分析,揭示本家系的致病遗传机制。研究方法:对该Nance-Horan综合征家系的一个男性患者进行全外显子组测序,结合此家系临床表型及遗传方式分析,选定X染色体上NHS基因上的一个无义突变c.322G>T(E108X)为可疑致病突变。通过聚合酶链式反应(PCR)和Sanger测序,对该家系内其他成员进行NHS基因突变分析,同时对50名健康对照者的NHS基因的突变检测结果进行对比。另外,将该突变的位点第108位氨基酸残基进行多物种NHS蛋白内序列比对。最后,对该家系成员眼部及全身的临床特点进行全面检查和分析。重要结论:全外显子组测序结合Sanger测序发现NHS基因第一个外显子上的c.322G>T(E108X)突变为引起该家系临床病变的突变位点;多物种NHS蛋白内序列比对发现该突变位点第108位氨基酸残基位于高度保守区;临床表型分析发现该家系内存在表型异质性。此家系为国内首次报道的无义突变引起的Nance-Horan综合征家系。