Progressive retinal atrophy rcd 1

From Dog

Progressive retinal atrophy rcd -1 is an autosomal-recessive genetic disease characterised by degeneration of the photoreceptor cells in the retina, eventually leading to complete blindness[1].

This genetic disease has been reported in the Irish Setter.

Most PRA cases with rcd 1 mutation are clinically indistinguishable from other forms of PRA.

Pups begin showing signs of night blindness by 6 weeks of age, and are completely blind by 1 - 2 years of age.

A breed-specific PCR test is available for testing for this condition[2].

There is no known treatment for this condition and severely affected individual dogs often remain blind.

References

  1. Petit L et al (2012) Restoration of Vision in the pde6β-deficient Dog, a Large Animal Model of Rod-cone Dystrophy. Mol Ther 20(11):2019-2030
  2. Downs LM et al (2012) Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet Jun 12