Cone-Rod Dystrophy
Cone-Rod Dystrophy (CRD) is an eye disorder resulting in degeneration of the retina at the back of the eye at a young age, causing progressive vision loss.
Key Signs
Progressive vision loss leading to blindness
Age of Onset
1 to 4 yrs
Junior to adult onset
Inheritance
Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
Likelihood of the Condition
High likelihood
At risk dogs are highly likely to show signs of this disease in their lifetime.
What to Do
Here’s how to care for a dog with CRD
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
For Veterinarians
Here’s what a vet needs to know about CRD
Ocular fundus changes, such as an initial cellophane-like increase in the tapetal area and pigment migration from the non-tapetal region, are observed. The age of onset of crd SWD varies from 10 months to 3 years, although affected puppies can be recognized as early as 5 to 10 weeks of age by the presence of pinpoint sized pupils upon examination with focal light. The disease leads to blindness within 6 years from the time signs are first noted.
Early on, affected dogs should not be exposed to bright light as it can be irritating or even painful. The diagnosis of crd SWD can be confirmed by performing a fundic exam to evaluate the retina. Treatment is supportive.
For Breeders
Planning to breed a dog with this genetic variant?
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier dog with one copy of the CRD mutation can be safely bred with a clear dog with no copies of the CRD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the CRD mutation. A dog with two copies of the CRD mutation can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the CRD mutation could develop due to a different genetic or clinical cause.
Technical Details
| Gene | NPHP4 |
|---|---|
| Variant | Deletion |
| Chromosome | 5 |
| Coordinate Start | 59,912,988 |
| Coordinate End | 59,913,167 |
All coordinates reference CanFam3.1
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References & Credit
Credit to our scientific colleagues:
Ropstad, E. O., Bjerkås, E., & Narfström, K. (2007). Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund. Veterinary Ophthalmology. View the article
Wiik, A. C., Wade, C., Biagi, T., Ropstad, E. O., Bjerkås, E., Lindblad-Toh, K., & Lingaas, F. (2008). A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. Genome Research, 18(9), 1415–1421. View the article
