摘要
X连锁遗传性视网膜劈裂症（XLRS，OMIM#312700）是一种较少见的X连锁隐性遗传病，主要累及双侧视网膜，造成神经纤维层和神经节细胞层之间的劈裂，患者具有典型的车轮状中心凹劈裂和视网膜电图b／a比值下降的特征性电生理改变，是由于XLRS1基因发生突变而导致的一种遗传性眼底疾病。就XLRS的发病机制、动物实验和临床治疗的研究进展进行综述。
Juvenile retinoschisis （RS or XLRS, MIM#312700）is a rare X-linked inherited disorder, mainly affects bilateral retina,and is characterized by cartwheel-like changes of the macular region of the retina and schisis or splitting within the inner retinal layers, leading to visual deterioration. The electroretinogram is beneficial in the diagnosis of juvenile retinoschisis. The a-wave can be of normal or nearly normal amplitude in this disorder,whereas the amplitude of the b-wave is appreciably reduced, giving a decrease in the proportion of b/a. The responsible gene, XLRS1 , maps to Xp22 and was identified by positional cloning. This paper makes a brief review about the latest XLRS research of pathogenesis, animal experiments, clinical therapy,and 25 references are cited.
出处
《中华实验眼科杂志》
CAS
CSCD
北大核心
2012年第1期94-96,共3页
Chinese Journal Of Experimental Ophthalmology
基金
基金项目：国家自然科学基金项目（30973263）
