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Leber先天性黑矇致病基因研究及基因治疗进展 被引量：2

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摘要 Leber先天性黑朦（LCA）是一种严重的遗传性视网膜病变，具有遗传异质性与表型多样性的特点。近年来的遗传学研究相继发现多个致病基因与LCA发病相关，并对这些致病基因的发病机制作了进一步研究。LCA基因治疗已经从临床前期动物研究阶段进入I期l临床试验阶段，尤其是在LCAⅡ型患者中进行的RPE65基因治疗方面取得了突破性进展，为其他遗传性视网膜疾病的基因治疗打下良好的基础。
作者 徐玉乐 李光辉
机构地区 上海爱尔眼科医院
出处 《中华眼底病杂志》 CAS CSCD 北大核心 2011年第5期499-502,共4页 Chinese Journal of Ocular Fundus Diseases
关键词 视神经萎缩 遗传性 Leber/先天性 基因疗法 综述
分类号 R774.63 [医药卫生—眼科]
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参考文献52

  • 1Leber T. Uber retinitis pigmentosa and angeborene amaurose. Graeires Arch Klin Exp Ophthalmol, 1869,15: 13-20.
  • 2Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol, 2004, 49 : 379-398.
  • 3Maguire AM,Simonelti F, Pierce EA, et al. Satety and elllcacy of gene transfer for Leber's congenital amaurosis. N Engl J Med, 2008, 358:2240-2248.
  • 4Bainbridge JWB, Smith A J, Barker SS, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med,2008,358:2231-2239.
  • 5Hauswirth WW, Aleman TS, Kaushal S, et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinat injection of adeno-assoeiated virus gene vector: short- term results of a phase 1 trial. Hum Gene Ther,19:979-990.
  • 6Cideciyan AV,Aleman TS, Boye SL, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid eyele of vision but with slow rod kineties. Proc Natl Acad Sci USA, 2008,105 : 15112-15117.
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  • 8Wang P, Guo X, Zhang Q. Further evidence of autosomal-dominant Leber eongenital amaurosis caused by heterozygous CRX mutation. Graefes Arch Clin Exp Ophthalmol,2007, 245,1401-1402.
  • 9Perrault I, Rozet JM, Calvas P, et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet, 1996,14 : 461-464.
  • 10Sohocki MM, Bowne SJ, Sullivan LS, et al. Mutations in a new photoreceptorpineal gene on 17p cause Leber congenital amaurosis. Nat Genet,2000,24:79-83.

同被引文献19

  • 1单海冬,赵培泉.Leber先天性黑蒙基因研究进展[J].国外医学（眼科学分册）,2005,29(2):113-116. 被引量：4
  • 2den Hollander AI,Roepman R,Koenekoop RK,et al.Leber congenital amaurosis:genes,proteins and disease mechanisms[J].Prog Retin Eye Res,2008,27:391-419.
  • 3van Wijk E,Kersten FF,Kartono A,et al.Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein[J].Hum Mol Genet,2009,18:51-64.
  • 4Henderson RH,Waseem N,Searle R,et al.An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy[J].Invest Ophthalm01 Vis Sci,2007,48:5684-5689.
  • 5Maguire AM,Simonelli F,Pierce EA,et al.Safety and efficacy of gene transfer for Leber's congenital amaurosis[J].N Engl J Med,2008,358:2240-2248.
  • 6Maguire AM,High KA,Auricchio A,et al.Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis:a phase 1 dose-escalation trial[J].Lancet,2009,374:1597-1605.
  • 7Simonelli F,Maguire AM,Testa F,et al.Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration[J].Mol Ther,2010,18:643-650.
  • 8Ashtari M,Cyckowski LL,Monroe JF,et al.The human visual cortex responds to gene therapy-mediated recovery of retinal function[J].J Clin Invest,2011,121:2160-2168.
  • 9Bennett J,Ashtari M,Wellman J,et al.AAV2 gene therapy readministration in three adults with congenital blindness[J].Sci Transl Med,2012,4:115-120.
  • 10Hauswirth WW,Aleman TS,Kaushal S,et al.Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector:shortterm results of a phase Ⅰ trial[J].Hum Gene Ther,2008,19:979-990.

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中华眼底病杂志
2011年 第5期

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