Effect of gene therapy on visual function in Leber's congenital amaurosis

被引：1510

作者：

Bainbridge, James W. B. ^{[1
,2
,3
]}

Smith, Alexander J. ^{[1
]}

Barker, Susie S. ^{[1
]}

Robbie, Scott ^{[1
]}

Henderson, Robert ^{[1
]}

Balaggan, Kamaljit ^{[1
]}

Viswanathan, Ananth ^{[1
,2
]}

Holder, Graham E. ^{[1
,2
]}

Stockman, Andrew ^{[1
]}

Tyler, Nick ^{[4
]}

Petersen-Jones, Simon ^{[6
]}

Bhattacharya, Shomi S. ^{[1
]}

Thrasher, Adrian J. ^{[5
]}

Fitzke, Fred W. ^{[1
]}

Carter, Barrie J. ^{[7
]}

Rubin, Gary S. ^{[1
,2
,3
]}

Moore, Anthony T. ^{[1
,2
,3
]}

Ali, Robin R. ^{[1
,2
,3
,5
]}

机构：

[1] UCL, Inst Ophthalmol, London EC1V 9EL, England

[2] Moorfields Eye Hosp, London, England

[3] UCL, Natl Inst Hlth Res, Biomed Res Ctr Ophthalmol, London, England

[4] UCL, Dept Civil & Environm Engn, London, England

[5] UCL, Inst Child Hlth, London, England

[6] Michigan State Univ, E Lansing, MI 48824 USA

[7] Targeted Genet Corp, Seattle, WA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2008年 / 358卷 / 21期

关键词：

D O I：

10.1056/NEJMoa0802268

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

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.

引用

页码：2231 / 2239

页数：9

共 24 条

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Acland GM, 2001, NAT GENET, V28, P92, DOI 10.1038/88327

[2] Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation [J].