EPOS

European Paediatric Ophthalmological Society

Abstract Preview

Gene therapy for inherited retinal disease

Bainbridge James^3
1UCL Institute of Ophthalmology

Introduction: Early-onset severe retinal dystrophy caused by mutations in RPE65, which encodes the retinal isomerase RPE65, is associated with poor vision at birth and complete loss of vision in early adulthood. There is no treatment available but the condition may be amenable to gene therapy. Methods:In a phase I/II clinical trial we administered subretinally to three young adult subjects recombinant adeno-associated virus vector (rAAV-2/2) expressing RPE65 cDNA under the control of a human RPE65 promoter. Results: There have been no serious adverse events. Examination of the patients up to 12 months after experimental treatment indicates that subretinal adminstration of rAAV vector is safe in humans and can lead to improved visual function. Conclusion: These findings support further clinical studies of this experimental approach in other patients with mutant RPE65