Retinale Dysplasie (OSD) – Northern Inuit, Tamaskan
Retinal dysplasia (OSD) - Northern Inuit, Tamaskan
General description
In addition to short-limbed dwarfism (short limbs with a normal axial skeleton) and skeletal dysplasia, visual impairment and blindness due to retinal detachment, retinal degeneration and/or cataract are typical symptoms.
Breeds
Northern Inuit, Tamaskan
Order details
| Test number | 8677 |
| Abbreviation | OSD |
| 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 |
| Causality | causally |
| Gene | COL9A3 |
| Mutation | C-T |
| Literature | OMIA:001522-9615 |
Detailed description
In the breeds Northern Inuit Dog and Tamaskan Dog, a genetic variant in the gene COL9A3 (exon 14) has been found to cause oculoskeletal dysplasia (OSD). Clinical symptoms are very similar to the symptoms that could be found at OSD affected Labrador Retrievers. In addition to short-limbed dwarfism (short limbs with a normal axial skeleton) and skeletal dysplasia, visual impairment and blindness due to retinal detachment, retinal degeneration and/or cataract are typical symptoms.
