Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.

@article{Kedzierski2001DeficiencyOR,
  title={Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.},
  author={Wojciech Kedzierski and Steven Nusinowitz and David G. Birch and Geoff Clarke and Roderick R Mcinnes and Dean Bok and Gabriel H. Travis},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2001},
  volume={98 14},
  pages={7718-23}
}
Retinitis pigmentosa (RP) is a group of inherited blinding diseases caused by mutations in multiple genes including RDS. RDS encodes rds/peripherin (rds), a 36-kDa glycoprotein in the rims of rod and cone outer-segment (OS) discs. Rom1 is related to rds with similar membrane topology and the identical distribution in OS. In contrast to RDS, no mutations in ROM1 alone have been associated with retinal disease. However, an unusual digenic form of RP has been described. Affected individuals in… CONTINUE READING