Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

@article{Sieving1995DarklightMF,
  title={Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.},
  author={Paul A. Sieving and Julia E. Richards and Frank Naarendorp and Eve L. Bingham and Kristin Scott and Mathew Alpern},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1995},
  volume={92 3},
  pages={880-4}
}
A human rhodopsin mutation, Gly-90-->Asp (Gly90Asp), cosegregated with an unusual trait of congenital nightblindness in 22 at-risk members of a large autosomal dominant kindred. Although rhodopsin mutations typically are associated with retinal degeneration, Gly90Asp-affected subjects up to age 33 did not show clinical retinal changes. Absolute threshold for visual perception was elevated nearly 3 logarithmic units in 7 individuals tested (ages 11-64), indicating greatly compromised rod… CONTINUE READING
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