Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.

@article{Richards1991RhodopsinTM,
  title={Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.},
  author={Julia E. Richards and Chin Y. Kuo and Michael Boehnke and Paul A. Sieving},
  journal={Ophthalmology},
  year={1991},
  volume={98 12},
  pages={1797-805}
}
The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of autosomal dominant retinitis pigmentosa (RP) in 16 family members. DNA sequence determination confirms the presence of the same mutation reported previously for one family apparently unrelated to the pedigree now reported. Features of RP in this family included a later onset of symptoms, with night blindness first noticed between ages 12 to 24 years. Although symptoms worsened with age… CONTINUE READING