Juvenile onset
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.
At risk dogs are highly likely to show signs of this disease in their lifetime.
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.
Early-Onset Adult Deafness is associated with early-onset hearing loss in the Rhodesian Ridgeback breed. The loss of hearing is due to abnormal functioning of cells in the inner ear, called cochlear hair cells, which are necessary for normal auditory function. Signs may be initially observed as early as 4 months of age but are more commonly observed between 6 to 24 months of age. The hearing loss usually progresses to complete deafness in both ears within the first 1 to 2 years of life and is not reversible.
Hearing loss can be confirmed with a BAER (Brainstem Auditory Evoked Response) hearing test. Since the hearing loss is permanent, therapy will be limited to supportive care. Dogs with hearing impairment can be trained to respond to hand cues and light signaling. Owners should be made aware that deaf dogs can startle easily and should be approached within their line of sight or gently roused from sleep by a light touch on their bedding. When outdoors, affected dogs should be on a leash at all times or in a fenced yard to prevent injury from dangers they cannot hear.
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 disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Early-Onset Adult Deafness, (Discovered in the Rhodesian Ridgeback) variant can be safely bred with a clear dog with no copies of the EOAD, (Discovered in the Rhodesian Ridgeback) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Furthermore, a dog with two copies of the EOAD, (Discovered in the Rhodesian Ridgeback) variant 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 disorder signs similar to the ones associated with this EOAD variant could develop due to a different genetic or clinical cause.
| Gene | EPS8L2 |
|---|---|
| Variant | Deletion |
| Chromosome | 18 |
| Coordinate Start | 25,868,739 |
| Coordinate End | 25,868,751 |
All coordinates reference CanFam3.1
Kawakami, T., Raghavan, V., Ruhe, A.L., Jensen, M.K., Milano, A., Nelson, T.C., Boyko, A.R. (2022). Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One, 17(4), e0264365. View the article
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