Present at birth
For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.
At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.
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.
Congenital Eye Malformations is a rare disorder which is characterized by a wide variety of anatomical abnormalities of the eyes. The findings may be unilateral or bilateral and range from subclinical to severe in nature. Reported cases have demonstrated visual impairment or blindness, optic nerve hypoplasia or aplasia, retinal dysplasia or aplasia, retinal detachment, congenital cataracts, deformed lens, ocular clouding, persistent pupillary membranes, nystagmus as well as behavioral abnormalities (such as aggression). One case study showed spontaneous nystagmus and progressive ataxia. Congenital Eye Malformations is thought to be autosomal dominant with incomplete penetrance, meaning not all individuals who inherit the associated genetic variant will develop the condition.
Treatment is dependent on the severity and type of abnormalities demonstrated by the individual. Unfortunately, severely affected dogs may require euthanasia based on welfare grounds.
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 dominant, meaning dogs with one or two copies of the Congenital Eye Malformations (Discovered in the Golden Retriever) variant are at an elevated risk for being diagnosed with this condition. There is also scientific evidence which suggests this genetic variant acts with incomplete penetrance, meaning not all individuals who inherit the variant will develop the associated condition. However, due to its rarity, use of dogs with one or two copies of the Congenital Eye Malformations (Discovered in the Golden Retriever) variant are not recommended for breeding, as there is a risk that the resulting litter will contain affected puppies. Please note: It is possible that clinical signs similar to the ones caused by this Congenital Eye Malformations variant could develop due to a different genetic or clinical cause.
| Gene | SIX6 |
|---|---|
| Variant | C>T |
| Chromosome | 8 |
| Coordinate | 35,566,504 |
All coordinates reference CanFam3.1
Hug, P., Anderegg, L., Dürig, N., Lepori, V., Jagannathan, V., Spiess, B., … Leeb, T. (2019). A SIX6 nonsense variant in Golden Retrievers with congenital eye malformations. Genes (Basel), 10(6), 454. View the article
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