Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

@article{Cideciyan2013HumanCV,
  title={Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.},
  author={Artur V. Cideciyan and Robert B Hufnagel and Joseph A. Carroll and Alexander M Sumaroka and Xunda Luo and Sharon B. Schwartz and Alfredo Dubra and Megan E Land and Michel Michaelides and Jessica C. Gardner and Alison J. Hardcastle and Anthony T Moore and Robert A Sisk and Z M Ahmed and Susanne Kohl and Bernd Wissinger and Samuel G. Jacobson},
  journal={Human gene therapy},
  year={2013},
  volume={24 12},
  pages={993-1006}
}
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression. The fate of opsin-deficient cone cells is unknown. We know that rod opsin… CONTINUE READING