Variable expressivity in X-linked congenital stationary night blindness.

@article{Pearce1990VariableEI,
  title={Variable expressivity in X-linked congenital stationary night blindness.},
  author={William G. Pearce and M. Reedyk and Stuart Glenn Coupland},
  journal={Canadian journal of ophthalmology. Journal canadien d'ophtalmologie},
  year={1990},
  volume={25 1},
  pages={3-10}
}
X-linked congenital stationary night blindness (CSNB) is a well-documented disorder in which the most striking clinical features are impaired night vision, nystagmus and myopia. Recent reports have highlighted differing features between families, and it has been suggested that these discrepancies may be the result of two loci on the X chromosome or of two mutant alleles. We outline the clinical and visual function findings in 42 affected members from 10 families and 1 adopted person. There was… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 17 extracted citations

Similar Papers

Loading similar papers…