Cone Degeneration (CD)
Cone Degeneration (CD)
General description
Breeds
German Short-haired Pointing Dog
Order details
| Test number | 8780 |
| Abbreviation | CD |
| 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 |
| Age of onset | 8-12 weeks |
| Causality | causally |
| Gene | CNGB3 |
| Mutation | C-T |
| Literature | OMIA:001365-9615 |
Detailed description
A mutation in the gene CNGB3 leads to Cone Degeneration (CD) in German Short-haired Pointing Dogs. Cone degeneration is an inherited disease of the retina. In affected puppies cone cells already start to degenerate in the puppy-stage, leading to a distinct form of day blindness. First symptoms can be recognised at the age of about 8-12 weeks. Affected puppies avoid bright light, as those conditions can cause pain for the dog. Vision in dim light conditions or at night stays normal. Afterwards, symptoms increase as cone cell degeneration progresses over time.
