中华实验眼科杂志
中華實驗眼科雜誌
중화실험안과잡지
CHINESE JOURNAL OF EXPERIMENTAL OPHTHALMOLOGY
2012年
1期
94-96
,共3页
X连锁遗传性视网膜劈裂症%治疗学%模型
X連鎖遺傳性視網膜劈裂癥%治療學%模型
X련쇄유전성시망막벽렬증%치료학%모형
X-linked juvenile retinoschisis%Therapeutics%Model
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.
X連鎖遺傳性視網膜劈裂癥(XLRS,OMIM#312700)是一種較少見的X連鎖隱性遺傳病,主要纍及雙側視網膜,造成神經纖維層和神經節細胞層之間的劈裂,患者具有典型的車輪狀中心凹劈裂和視網膜電圖b/a比值下降的特徵性電生理改變,是由于XLRS1基因髮生突變而導緻的一種遺傳性眼底疾病.就XLRS的髮病機製、動物實驗和臨床治療的研究進展進行綜述.
X련쇄유전성시망막벽렬증(XLRS,OMIM#312700)시일충교소견적X련쇄은성유전병,주요루급쌍측시망막,조성신경섬유층화신경절세포층지간적벽렬,환자구유전형적차륜상중심요벽렬화시망막전도b/a비치하강적특정성전생리개변,시유우XLRS1기인발생돌변이도치적일충유전성안저질병.취XLRS적발병궤제、동물실험화림상치료적연구진전진행종술.
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.
