A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.

@article{Vinberg2015ANM,
  title={A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.},
  author={Frans Vinberg and Tian Wang and Robert S Molday and Jeannie Chen and Vladimir J Kefalov},
  journal={Human molecular genetics},
  year={2015},
  volume={24 20},
  pages={5915-29}
}
Mutations that affect calcium homeostasis (Ca(2+)) in rod photoreceptors are linked to retinal degeneration and visual disorders such as retinitis pigmentosa and congenital stationary night blindness (CSNB). It is thought that the concentration of Ca(2+) in rod outer segments is controlled by a dynamic balance between influx via cGMP-gated (CNG) channels… CONTINUE READING