无脉络膜症的发病机制及诊疗进展

Survey and Investigation of the Pathogenesis of Choroideremia

无脉络膜(CHM)是一种X染色体连锁的遗传性进行性视网膜色素上皮,光感受细胞和脉络膜血管逐渐退化,最终致盲的疾病。该病是由于位于Xq21上的REP-1缺失突变导致失活,导致CHM基因不能表达,从而出现脉络膜血管层发育障碍,进行性视网膜色素上皮和脉络膜营养不良,变性及进行性脉络膜萎缩消失。男性患者一般在十几岁至二十几岁时开始出现夜盲,周边视野逐渐丧失,形成管状视野,严重者仅剩5-10度的中央视野,最终失明。女性携带者大多无症状。

Choroideremia CHM） is an X-linked recessive inherited disease characterized by progressive degeneration of the choroid, retinal pigment epithelium, and the retina [1]. Affected males experience night blindness in childhood, followed by progressive loss that leads to legal blindness later in life. Female carriers generally do not show serious visual impairment, but they may have patchy areas of pigmentation and retinal pigment epithelium （RPE） degeneration due to random X-inactivation.