CAJ | 학술논문

先天性无脉络膜症是一种X链锁的以夜盲和进展性视野缩小为主要特征的严重眼病,致盲率较高,到目前已确定的致病基因为CHM基因.先天性无脉络膜从视网膜色素变性中分离出来已经有半个世纪,但在中国的研究还是空白.受累的男性初期表现为夜盲,进展性周边视野缺失,视野进行性变小.目前对于无脉络膜症尚无有效的治疗方法,总的治疗建议是尽量减少紫外线照射,保持健康的生活方式,也有部分有关营养和基于细胞的治疗研究.视网膜下腔移植自体虹膜色素上皮细胞有一定的治疗作用.
선천성무맥락막증시일충X련쇄적이야맹화진전성시야축소위주요특정적엄중안병,치맹솔교고,도목전이학정적치병기인위CHM기인.선천성무맥락막종시망막색소변성중분리출래이경유반개세기,단재중국적연구환시공백.수루적남성초기표현위야맹,진전성주변시야결실,시야진행성변소.목전대우무맥락막증상무유효적치료방법,총적치료건의시진량감소자외선조사,보지건강적생활방식,야유부분유관영양화기우세포적치료연구.시망막하강이식자체홍막색소상피세포유일정적치료작용.
Choroideremia (CHM) is known as a genetic heterogeneous X-linked recessive disease associated with different types of mutations in the CHM gene.Affected males develop night blindness in their teenage years,followed by loss of peripheral vision because of the progressive visual field constriction,and blindness.CHM has been recognized as clinically distinct from other retinal degenerations for more than half a century.So far,no effective treatment exists for either disease.General advice is offered to patients regarding minimizing their exposure to ultraviolet light and optimizing their general wellbeing through a healthy lifestyle.Some groups are now testing cell-based therapies.Transplantation of autologous transduced iris pigment epithelial (IPE) cells into the subretinal space might help CHM patients in the future.