Congenital stationary night blindness (CSNB)
Congenital stationary night blindness (CSNB)
General description
This retinal disorder is characterized by night blindness and already appears at an age of 6 months. The vision can range from normal day vision to profound day blindness. Affected dogs have abnormal electroretinograms (ERG).
Breeds
Briard
Order details
| Test number | 8011 |
| Abbreviation | CSNB |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 6 months |
| Causality | causally |
| Gene | RPE65 |
| Mutation | DEL |
| Literature | OMIA:001222-9615 |
Detailed description
The Briard suffers from a retinal disorder characterized by congenital night blindness with various degrees of visual impairment under photo topic illumination. The vision of affected dogs can range from normal day vision to profound day blindness. The disease generally appears first in early whelpage, at about six month and results from a mutation in the RPE65 gene. Along with the visual impairment, affected dogs have abnormal electroretinograms (ERG).
