无脉络膜症诊疗新进展

Latest progress on diagnosis and treatment of choroideremia

无脉络膜症（Choroideremia,CHM）是一种致盲的遗传性疾病,是通过X染色体长臂上的一个基因（CHM）传递的、由于编码Rab escort蛋白1（REP-1）的CHM基因的缺失或突变导致的、双眼发病的脉络膜视网膜渐进性萎缩性疾病。其特点是X染色体隐性遗传,随着视网膜光感受器、视网膜色素上皮细胞（RPE）和脉络膜毛细血管层逐渐萎缩,视力逐渐丧失。无脉络膜症的致病基因是CHM基因,位于Xq21.2,编码蛋白质REP-1。该病的男性患者发病较早,症状从早期的（十几岁-二十几岁）夜盲症逐渐发展为周边视野缺失,到晚年仅存中心管状视野,最终失明,女性携带者一般无症状。目前,无脉络膜症的诊断已有详细的诊断标准,基因治疗和视网膜移植是近年来被认为可以实现的治疗方法。其中,AAV2和AAV8的临床前研究已经完成,CHM受试者中AAV2介导的基因治疗的安全试验也已经完成。

Choroideremia（CHM） is a kind of blindness-causing hereditary disease,inherited in a gene on the long arm of X chromosome,caused by the CHM gene deletion or mutation which encoding Rab escort protein 1（REP-1）,and is characterized by binocular,progressive chorioretinal degeneration.This desease is X-linked recessive inherited disorder.The vision will lose gradually as the atrophying of retinal photoreceptor,RPE and choriocapillary.The virulence gene of choroideremia is CHM,located in Xq21.2,coding REP-1.Typically,in affected males,symptoms evolve from night blindness to peripheral visual field loss,with central vision preserved until late in life.Female carriers are generally asymptomatic.At present,there are detailed diagnostic criteria with CHM.Gene therapy and the retina transplantation are considered as possible treatments in recent years.The preclinical studies of AAV2 and AAV8 have been completed.A safety trial of AAV2-mediated gene therapy in human subjects with CHM has been completed.