Stargardt病1型的治疗研究现状与进展  

The progress in treatment of type 1 of Stargardt disease

作　　者：王丹丹 高凤娟 张圣海 常青 徐格致 吴继红 Wang Dandan;Gao Fengjuan;Zhang Shenghai;Chang Qing;Xu Gezhi;Wu Jihong(Eye Institute,Eye&ENT Hospital of Fudan University,Shanghai 200031,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院眼科研究院,上海200031

出　　处：《中华眼底病杂志》2021年第7期567-572,共6页Chinese Journal of Ocular Fundus Diseases

摘　　要：Stargardt病(STGD)是最常见的遗传性黄斑营养不良,多在儿童期或青少年期发病,几乎所有患者都会出现不可逆的视力下降。其中以1型STGD(STGD1)最为常见,是由于Abca4基因突变引起的常染色体隐性遗传疾病。近年来,针对STGD1的治疗研究取得了令人鼓舞的进展,其中C20氘化维生素A(ALK-001)、芬维A胺(fenretinide)和ICR-14967(A1120)等视觉周期调节药物、StarGen基因补充疗法以及人胚胎干细胞来源的视网膜色素上皮细胞移植展现了光明的应用前景。相信随着各项研究的深入和临床试验的成功开展,STGD1的各种治疗手段在临床的应用指日可待,未来将有望挽救广大患者的视力。Stargardt disease(STGD)is one of the most prevalent inherited macular dystrophy,and most often occurs in child or adolescence.Irreversible vision loss is observed in almost all cases.Type 1(STGD1)is one of the most common type.It is an autosomal recessive condition,caused by mutations in the Abca4 gene.In recent years,encouraging progress has been made in the treatment of STGD1.C20-D3-retinyl acetate(ALK-001),fenretinide and ICR-14967(A1120)as visual cycle modulators,StarGen as gene supplementation therapies,and the stem cell transplantation of human embryonic stem cell-derived retinal pigment epithelium cells are the most promising therapies.With the development of studies and clinical trials,the clinical application of various treatments of STGD1 are expected in the near feature,which are expected to save the vision of most patients.

关 键 词：Abca4 STARGARDT病 药物治疗 基因治疗 干细胞移植 综述 

分 类 号：R774.5[医药卫生—眼科]