Coussa Razek Georges, Traboulsi Elias I
Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Ophthalmic Genet. 2012 Jun;33(2):57-65. doi: 10.3109/13816810.2011.620056. Epub 2011 Oct 21.
Choroideremia (CHM) is an X-linked retinal dystrophy belonging to the family of blinding disorders. It is characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the Rab Escort Protein 1 (REP-1) gene, which encodes a protein involved in vesicular trafficking. This paper gives an overview of the clinical features, visual function, biochemistry, histology, molecular genetics, pathogenesis, diagnosis and treatment of CHM.
无脉络膜症（CHM）是一种属于致盲性疾病家族的X连锁视网膜营养不良。其特征是脉络膜毛细血管、视网膜色素上皮和光感受器进行性退变。CHM由Rab护送蛋白1（REP-1）基因突变引起，该基因编码一种参与囊泡运输的蛋白质。本文概述了CHM的临床特征、视觉功能、生物化学、组织学、分子遗传学、发病机制、诊断和治疗。
