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Published at www.nejm.org April 27, 2008 (10.1056/NEJMoa0802268)

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SUMMARY

Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium–specific 65-kDa 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] .)

Source Information

From the Institute of Ophthalmology, University College London (J.W.B.B., A.J.S., S.S. Barker, S.R., R.H., K.B., A.V., G.E.H., A.S., S.S. Bhattacharya, F.W.F., G.S.R., A.T.M., R.R.A.); Moorfields Eye Hospital (J.W.B.B., A.V., G.E.H., A.T.M.); the National Institute of Health Research Biomedical Research Centre for Ophthalmology, University College London and Moorfields Eye Hospital (J.W.B.B., G.S.R., A.T.M., R.R.A.); the Department of Civil and Environmental Engineering, University College London (N.T.); and the Institute of Child Health, University College London (A.J.T., R.R.A.) — all in London; Michigan State University, East Lansing (S.P.-J.); and Targeted Genetics Corporation, Seattle (B.J.C.).

Drs. Bainbridge and Smith contributed equally to this article.

This article (10.1056/NEJMoa0802268) was published at www.nejm.org on April 27, 2008. It will appear in the May 22 issue of the Journal.

Address reprint requests to Dr. Ali at the Institute of Ophthalmology, University College London, Bath St., London EC1V 9EL, United Kingdom, or at r.ali{at}ucl.ac.uk.

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