Abstract
Gene therapy clinical trials with gene augmentation therapy for Leber Congenital Amaurosis have shown partial reversal of retinal dysfunction. Most studies described the effect of treatment in a single eye and limited evidence is reported in literature about patients treated in both eyes. In this chapter, we present the findings of a young patient treated in both eyes. Efficacy of the treatment was assessed with Best Corrected Visual Acuity, Goldman Visual Field testing, Esterman computerized binocular visual field and Microperimetric testing. Post-treatment results showed improvement of visual function in both eyes, in particular, a strong amelioration was observed after the first injection, by using conventional monocular tests. Moreover, the treatment in the second eye resulted in a further improvement of binocular visual functionality, as easily detected by computerized binocular visual field. In conclusion, our data suggest that gene therapy can inhibit retinal degeneration and can be safe and effective in restoring visual functionality in young subjects treated in both eyes. Finally, new outcome measurements, in particular binocular computerized visual field parameters, can therefore be useful to quantify overall visual gain in patients undergoing gene therapy in both eyes.
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Acknowledgments
We thank Carmela Acerra for technical assistance. This work was supported by Italian Telethon Foundation (grant GGP10199 to Francesca Simonelli) and The Children’s Hospital of Philadelphia. The outcome measures were approved by the Italian Ethics Committee. The surgical delivery of AAV2-.hRPE65v2 was carried out at The Children’s Hospital of Philadelphia as approved by IRB protocol #10-007752.
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Testa, F. et al. (2016). Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes. In: Bowes Rickman, C., LaVail, M., Anderson, R., Grimm, C., Hollyfield, J., Ash, J. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 854. Springer, Cham. https://doi.org/10.1007/978-3-319-17121-0_71
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DOI: https://doi.org/10.1007/978-3-319-17121-0_71
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