Progressive retinal atrophy rcd 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.
There is no known treatment for this condition and severely affected individual dogs often remain blind.
- 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
- 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