【摘要】 斜视和弱视严重影响视觉发育,是导致儿童盲的主要原因之一。该项目将基础研究与临床工作相结合,从疾病相关结构与功能的各个方面开展研究。开展了国内首个以人群为基础的大样本斜视、弱视及视力发育的流行病学研究,确立了学龄前儿童弱视诊断标准;开展了一系列弱视及视觉发育的基础研究,创新了弱视功能评估方法;从多角度开展了斜视病因学研究,在国内率先开展了眼外肌Pulley结构组织学、生物力学和影像学的再创新研究;率先采用分子遗传学、神经影像学和组织学等手段,验证并丰富了CCDDs疾病群的"神经发育缺陷"假说,在国内首创了斜视影像学诊断技术;基于斜视病因学研究成果,创新了CCDDs疾病群、旋转性斜视、高度近视眼限制性斜视、垂直分离性斜视、合并斜视的先天性眼球震颤等复杂性斜视的手术术式;在我国推动了斜视微创和显微手术技术,参与确立了斜视手术技术评估国际规则。在相关遗传性致盲眼病的研究领域定位了一个新的adRP连锁位点,被国际基因命名委员会(HGNC)命名为RP33;首次克隆了SNRNP200基因,并证实其为adRP致病相关基因,提出了adRP的发生是源于SNRNP200依赖的U4/U6解旋功能缺陷的新机制,建立了adRP快速遗传学筛查的有效方法。更多还原

【Abstract】 Strabismus and amblyopia are prime reasons that cause children’s blindness as they can seriously affect the visual development. This project carried out studies on different aspects of structural and functional changes of the diseases through combination of basic research and clinical practices. Among the studies,the first population-based big sample epidemiologic research in China on strabismus,amblyopia and visual development established a diagnosis standard of amblyopia for pre-school children;a series of basic researches in amblyopia and visual development created novel functional evaluation methods for amblyopia. Some studies focused on the etiology of strabismus from multiple aspects. Re-innovational study on the structural histology,the biomechanics and the imaging of extra-ocular muscle Pulley was firstly done in China. The hypothesis of neural developmental defects of CCDDs was verified with approaches of molecular genetics,neural imaging and histology. Imaging techniques for strabismus were firstly innovated and applied in China. Based on results of etiological researches in strabismus,surgical procedures for the complex strabismus of CCDDs, torsional strabismus, high myopia restrictive strabismus, dissociate vertical strabismus,congenital nystagmus associated with strabismus. The microscopic strabismus surgery was initiated in China. The ophthalmology surgical competency assessment rubric for strabismus surgery was established by Zhao as one of the senior authors. A novel locus(named by HGNC as RP33)for autosomal dominant retinitis pigmentosa was assigned to chromosomal region 2cen-q12.1. The study firstly disclosed that autosomal-dominant retinitis pigmentosa is caused by a mutation in SNRNP200,a gene required for unwinding of U4/U6 snRNAs. The study established a novel effective approach for fast genetic screening of adRP.更多还原