Progressive retinal atrophy of Golden Retrievers

From Dog

Progressive retinal atrophy (PRA) is a well-recognized autosomal-recessive genetic disease characterised by degeneration of the photoreceptor cells in the retina, eventually leading to complete blindness[1].

The disease in this breed is caused by a frame-shift mutation in the prcd-PRA (progressive rod-cone) gene. In the closely related Labrador Retriever breed, the only known form of progressive retinal atrophy is called progressive rod cone degeneration[2], a form of PRA that affects at least 22 breeds. To date only the prcd-PRA mutation has been associated with PRA in the Golden Retriever. However, only a small number of PRA-affected Golden Retrievers have been found to be homozygous for the prcd-mutation.

Most PRA cases in the Golden Retriever are clinically indistinguishable from other forms of PRA.

In Golden Retrievers, a species DNA test is available for testing for this condition, which can affect pups from 6 weeks of age. The DNA test is a ‘mutation-based test’ rather than a ‘linkage-based test’.

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

References

  1. Downs LM et al (2011) A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6(6):e21452
  2. Zangerl B et al (2006) Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551–563