Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

@article{Cideciyan2013HumanRG,
  title={Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement},
  author={A. V. Cideciyan and S. Jacobson and W. Beltran and A. Sumaroka and Małgorzata Świder and Simone Iwabe and A. J. Roman and Melani B. Olivares and S. B. Schwartz and A. Kom{\'a}romy and W. Hauswirth and G. Aguirre},
  journal={Proceedings of the National Academy of Sciences},
  year={2013},
  volume={110},
  pages={E517 - E525}
}
Significance The first retinal gene therapy in human blindness from RPE65 mutations has focused on safety and efficacy, as defined by improved vision. The disease component not studied, however, has been the fate of photoreceptors in this progressive retinal degeneration. We show that gene therapy improves vision for at least 3 y, but photoreceptor degeneration progresses unabated in humans. In the canine model, the same result occurs when treatment is at the disease stage equivalent to humans… Expand
Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease
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Long-term effect of gene therapy on Leber's congenital amaurosis.
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