Usher综合征
医学
视网膜变性
色素性视网膜炎
眼底(子宫)
眼底摄影
眼科
萎缩
剪接位点突变
黄斑变性
视网膜电图
视力
视网膜
遗传学
荧光血管造影
病理
基因
生物
RNA剪接
核糖核酸
作者
Ehab Abdelkader,Lama Enani,Patrik Schatz,Leen Abu Safieh
出处
期刊:Saudi Journal of Ophthalmology
[Medknow Publications]
日期:2017-10-26
卷期号:32 (2): 119-125
被引量:13
标识
DOI:10.1016/j.sjopt.2017.10.004
摘要
Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene.Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging with colour fundus photography, fundus autofluorescence (AF), and optical coherence tomography (OCT) scans was performed. Full field electroretinogram (ffERG) was recorded. Molecular genetic testing was done using next-generation sequencing.Visual acuity was more reduced (range 20/300-20/40) in older siblings (age>30 years), than in younger (age <30 years) siblings (range 20/70-20/25). OCT scans showed macular atrophy in all but one case that has cystoid macular edema (CME). AF demonstrated atrophy outside a small foveal area showing high signal. FfERG was flat in all cases. The homozygous splice site mutation c.470+1G>A in intron 5 of the MYO7A gene was detected in all affected siblings.This mutation manifested with advanced retinal degeneration at a young age. This may have implications regarding future gene therapy in Usher syndrome cases with this genotype.
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