Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

@article{BechHansen1998LossoffunctionMI,
  title={Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness},
  author={N. Torben Bech-Hansen and M. J. Naylor and Tracy A. Maybaum and William G. Pearce and Ben F. Koop and Gerald Allen Fishman and Marilyn Baird Mets and Maria A. Musarella and Kym M. Boycott},
  journal={Nature Genetics},
  year={1998},
  volume={19},
  pages={264-267}
}
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myopia, undetectable rod function and a normal cone response, whereas patients with incomplete CSNB show moderate myopia to hyperopia and subnormal but measurable rod and cone function… CONTINUE READING

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