Progressive retinal atrophy (Pap-PRA1) is a hereditary disease which can be tested with a DNA test. Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and cell death of photoreceptor. Progressive retinal atrophy 1 in Papillons and Phalenes is an autosomal recessive PRA. Affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function. The first clinical signs are seen as difficulties in the dim light. This hereditary disease progresses very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved.
Inheritance: autosomal recessive - read more
Mutation: CNGB1 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.