Progressive retinal atrophy: a model for retinitis pigmentosa in companion animals

Gene Ther. 1994:1 Suppl 1:S89.

Abstract

The generalised progressive atrophies (PRA's) are a heterogeneous group of inherited retinopathies in dogs and cats. They show marked similarities to the retinitis pigmentosas (RP) in man, as well as to a number of inherited retinal degenerations of laboratory rodents. Of the various recessively inherited forms of PRA in the dog, that in the Irish setter is due to a nonsense mutation in the gene encoding cGMP-PDE-beta subunit. Mutations at this locus are also known to cause a proportion of human RP cases. We are interested in applying gene therapy to these diseases.

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics
  • Animals
  • Animals, Domestic
  • Cats
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • Disease Models, Animal
  • Dogs
  • Genetic Therapy
  • Humans
  • Phosphoric Diester Hydrolases*
  • Retinitis Pigmentosa / etiology
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / physiopathology

Substances

  • Phosphoric Diester Hydrolases
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6B protein, human