医学
RPE65型
顺反异构体
显微视野计
视力
视网膜电图
眼科
遗传增强
视网膜
视网膜色素上皮
视觉光转导
基因
生物
遗传学
异构酶
肽基脯氨酰异构酶
作者
James Bainbridge,Alexander J. Smith,Susie S Barker,Scott Robbie,Robert H. Henderson,Kamaljit S. Balaggan,Ananth C. Viswanathan,Graham E. Holder,Andrew Stockman,Nick Tyler,Simon M. Petersen‐Jones,Siladitya Bhattacharya,Adrian J. Thrasher,Fred W. Fitzke,Barrie J. Carter,Gary S. Rubin,Anthony T. Moore,Robin R. Ali
标识
DOI:10.1056/nejmoa0802268
摘要
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium-specific 65-kD protein (RPE65) is associated with poor vision at birth and complete loss of vision in early adulthood. We administered to three young adult patients subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter. There were no serious adverse events. There was no clinically significant change in visual acuity or in peripheral visual fields on Goldmann perimetry in any of the three patients. We detected no change in retinal responses on electroretinography. One patient had significant improvement in visual function on microperimetry and on dark-adapted perimetry. This patient also showed improvement in a subjective test of visual mobility. These findings provide support for further clinical studies of this experimental approach in other patients with mutant RPE65. (ClinicalTrials.gov number, NCT00643747 [ClinicalTrials.gov].).
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