Progressive Retinal Atrophy (PRA-BBS2)

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

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.