Progressive retinal atrophies (PRA) are a group of hereditary diseases characterized by vision impairment due to retinal degeneration, which is a result of progressive cell death of the rod and cone photoreceptors in the retina. A late-onset form of PRA called BBS2-PRA was characterized in Shetland Sheepdogs. Clinical symptoms, which include retinal thinning, atrophy of the optic disc, retinal vascular weakening, night blindness and decline in daylight vision become apparent in affected dogs around 8 years of age. Cataracts may develop in later stages of the disease.

Inheritance: autosomal recessive - read more

Mutation:  BBS2  gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.