Progressive Retinaatrophie (BBS4-PRA)
Progressive retinal atrophy (BBS4-PRA)
General description
Bardet-Biedl syndrome is associated with diverse symptoms inlcuding retinopathy, obesity, and infertility in variable degrees of severity. First signs can be detected at the puppies already .
Breeds
Puli
Order details
| Test number | 8207 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Literature | OMIA:002045-9615 |
Detailed description
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.
