Progressive retinal atrophy is the most common cause of hereditary blindness in dogs. Bardet - Biedl Syndrome 4 (PRA-BBS4) is an inherited recessive ciliopathy described in Puli. BBS4 is one of eight evolutionary proteins, which are essential to cilia on multiple cell types. The symptoms of disease manifest due to disruptions in ciliary growth maintenance and/or function. Progressive retinal atrophy (PRA-BBS4) is characterized by gradual vision loss, because of degeneration of photoreceptor cells in the retina. The degeneration continues until the affected dogs are completely blind. Other symptoms, when the retina deteriorates, include tapetal hyperreflectivity, vascular attenuation, pigmentary changes and atrophy of the optic nerve head.

Inheritance: autosomal recessive - read more

Mutation: BBS4 gene

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

Disease control: read more

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