Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency.

@article{Mihelec2011LongtermPO,
  title={Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency.},
  author={Marija Mihelec and R. M. Akers R. E. Pearson and Scott J. Robbie and Prateek K. Buch and S A Sultana Azam and James W B Bainbridge and Alexander D. Smith and Robin R Ali},
  journal={Human gene therapy},
  year={2011},
  volume={22 10},
  pages={1179-90}
}
Leber congenital amaurosis (LCA) is a severe retinal dystrophy manifesting from early infancy as poor vision or blindness. Loss-of-function mutations in GUCY2D cause LCA1 and are one of the most common causes of LCA, accounting for 20% of all cases. Human GUCY2D and mouse Gucy2e genes encode guanylate cyclase-1 (GC1), which is responsible for restoring the dark state in photoreceptors after light exposure. The Gucy2e(-/-) mouse shows partially diminished rod function, but an absence of cone… CONTINUE READING