Recent progress in molecular genetics and therapy for X-linked juvenile retinoschisis

VernacularTitle:X连锁遗传性视网膜劈裂症的分子遗传学与治疗研究进展
Author: Zhuo, YE ; Yan-li, JI
Publication Type:Journal Article
Keywords: X-linked juvenile retinoschisis; Therapeutics; Model
From: Chinese Journal of Experimental Ophthalmology 2012;30(1):94-96
CountryChina
Language:Chinese
Abstract: 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,XLRSl,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.