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Congenital Eye Malformations (Discovered in the Golden Retriever)

Congenital Eye Malformations is a rare disorder that can cause a variety of abnormalities affecting one or both eyes and may impair vision. The associated genetic variant has been identified in the Golden Retriever.

Key Signs

Visual impairment or Blindness, Nystagmus, Variable ocular malformations, Ocular cloudiness, Retinal detachment, Persistent pupillary membrane(s), Behavioral abnormalities

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Dominant

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.

Likelihood of the Condition

Moderate likelihood

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.

What to Do

Here’s how to care for a dog with Congenital Eye Malformations

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 Congenital Eye Malformations

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.

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 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.

Technical Details

Gene SIX6
Variant C>T
Chromosome 8
Coordinate 35,566,504

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

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