Progressive retinal atrophia (BBS4-PRA)

Progressive retinal atrophy (BBS4-PRA)

LABOKLIN Service ID: 8207

Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and subsequent blindness. While there are PRA mutations that are shared by multiple breeds, many seem to be private to a single breed or are found in breeds sharing similar ancestral backgrounds. Typical signs found by ophthalmoscopic examination are widespread tapetal hyper-reflectivity and retinal vascular attenuation. Genetic testing complements clinical eye examinations with the advantage of detecting known PRA mutations before breeding age or before clinical signs present.
In the breed Puli, a genetic variant in the BBS4 gene was found to cause PRA. Affected dogs were diagnosed with PRA at the age of 2 years, symptoms were reduced sight due to ophthalmologic changes including reduced myelination in the optic nerve head. Additional clinical symptoms were obesity and infertility. These versatile symptoms occur in variable forms in affected dogs.