遗传性视网膜劈裂症的研究进展

Research advances in X-linked retinoschisis

X连锁遗传性视网膜劈裂症是一种较少见的遗传性疾病,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,该疾病常可以自行好转、静止或者加重。近年来,随着光学相干断层扫描(OCT)、遗传学检测等检查技术应用的普及,对于X连锁遗传性视网膜劈裂症的临床表现、视网膜结构及功能上的变化有了更深入的认识。

X-linked retinoschisis is a rare inherited disease that mainly affects the bilateral retina,resulting in splitting between the nerve fiber layer and ganglion cell layer.The disease often improves,rests or even aggravates on its own.In recent years,with the popularity of optical coherence tomography(OCT),genetic testing and other testing techniques,the clinical manifestations,retinal structure and function of X-linked hereditary retinoschisis have been more deeply understood.