congenitalcataract相关论文
目的:探讨一个眼-脑-肾综合征(Lowe综合征)家系基因型与表型的关系，为遗传咨询提供依据。方法:应用全外显子测序(whole exome seque......
Identification and functional analysis of a novel connexin 50 mutation associated with autosome domi
Purpose To identify the potential pathogenic mutation responsible for autosomal dominan congenital cataract(ADCC)in a Ch......
A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese fami
AIM Congenital cataracts are a major cause of visual impairment in children[1,2].The study aimed to identify the disease......
Aim To identify the mutations associated with congenital cataract in a Chinese family and study the functional effects o......
Comparisons of timing and approaches in congenital cataract surgery:A 4-year randomized controlled t
The optimal timing of surgery and the approach that should be used during congenital cataract surgery are controversial ......
Prenatal Diagnosis of Lowe Syndrome Caused by Interstitial Deletion of Xq25-26 and One Year Follow-u
Objective By presenting a case of Lowe syndrome which was suspected by ultrasound and diagnosed by microarray test,the o......
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosom
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目的:通过临床表型分析、n NHS基因变异检测明确1个Nance-Horan综合征家系的致病原因，为临床诊断提供依据。n 方法:提取先......
2003年7月,我院收住1例4个月龄的先天性白内障合并先天性心脏病患儿,通过对患儿家属正确的引导,根据疾病的特殊性进行教育,并针对......
目的 观察白内障超声乳化、后囊膜切开联合前部玻璃体切割治疗先天性白内障的效果.方法 对54例(90只眼)先天性白内障进行手术治疗,......
目的 评价25G经结膜无缝合玻璃体切割手术系统(TSV25G)治疗先天性白内障手术中应用的临床疗效.方法 回顾分析20例29只眼(2～12岁)行......
目的：探讨硬性透气性接触镜（CRGPCL）在先天性白内障患儿术后无晶体眼的视力矫正及视功能改善的临床效果。方法回顾性分析2010年5月至2......
目的探讨先天性白内障术式对视觉发育的影响。方法对59例(109眼)先天性白内障行不同术式治疗,分为A组先天性白内障吸出联合后囊膜......
目的 白内障超声乳化吸出联合人工晶状体植入术成为治疗婴幼儿先天性白内障的首选方法.了解婴幼儿白内障术后眼球发育变化规律,对......
先天性白内障是导致儿童低视力及盲的常见眼科疾病之一.在众多致病因素中,遗传因素占首要地位.随着分子生物学技术的发展,已经明确......
Significance of Axial Length Monitoring in Children with Congenital Cataract and Update of Measureme
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Significance of Axial Length Monitoring in Children with Congenital Cataract and Update of Measureme
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目的评价儿童先天性和外伤性白内障手术的效果.方法对77例(101眼)儿童行白内障摘出手术,其中78眼植入人工晶状体,25眼后囊截开,16......
