Mutation Screen in 119 Chinese LCA patients by Next Generation Sequencing(NGS)

来源 :第十七届亚非眼科大会暨中华医学会第十九次全国眼科学术大会 | 被引量 : 0次 | 上传用户:seed_weed1
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Purpose Leber Congenital Amaurosis (LCA) represents the most severe form of human inherited retinal dystrophies with photoreceptor neuron degeneration and blindness with an incidence of ~1 in 80,000.The goal is to perform mutation screen in known retinal disease genes in a LCA cohort.
其他文献
Most genome-scale analyses amount to multiple statistical testing of the association between a phenotype and many individual genes.Such analyses, despite their popularity and widespread practices, are
会议
We see the world with two eyes.How the visual system combines information from the two eyes to form a unitary binocular representation of the external world is a fundamental question in vision science
会议
视神经损伤是眼外伤研究的重要内容,关于视神经损伤的活体观察,功能影像学技术带来了新进展.既往,我们利用锰离子增强磁共振图像技术活体观察了视觉通路的功能影像及视神经损伤后的变化.本文将结合文献和本课题组所开展的实验研究,介绍活体观察视觉通路研究的新进展.
会议
Background To describe an unusual case of accidental ocular penetrating injury via a needle with attached syringe containing a Foot and Mouth Disease vaccine.IMethods Case Report.In addition to the di
会议
Purpose There is no consensus as to the optimum treatment for traumatic optic neuropathy (TON).The decision to intervene medically or surgically, or simply observe was recommended to be on an individu
会议
Purpose To describe the technique of endoscopic transethmoidal orbital fat decompression (ETOFD) for proptosis inGraves orbitopathy (GO) and report outcomes.Design: Retrospective, interventional case
会议
Objective: High-velocity trauma to the upper face results in complex orbital fractures, and due to the anatomic position, ophthalmic and neurological complications are encountered as well as sequels o
会议
Objective Primarily screen differentially expressed microRNAs of the TAO groups, compared to control group,via the part of immunopathogenesis.Method Patients were divided into 3 groups,silent TAO grou
会议
Purposes: To study the anatomical characters remaining in the macular after successful idiopathic macular hole surgery using optic coherence tomography (OCT), and further analyze the correlation betwe
会议
Purpose To evaluate the efficacy and safety of multiple intravitreal injections of ganciclovir for patients with cytomegalovirus (CMV) retinitis after stem cell transplantation.
会议