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Collie Eye Anomaly (CEA)

Collie Eye Anomaly (CEA) is an ocular disorder characterized by abnormal development of structures in the back of the eye. The most prevalent abnormality is choroidal hypoplasia, in which the blood supply layer of the eye is underdeveloped. The disorder can vary in severity, with some dogs showing only mild blood vessel abnormalities while others experience vision loss due to retinal disease or optic nerve abnormalities. CEA is most commonly found in breeds of herding descent.

Found in

1 in 38 dogs

in our testing

Key Signs

Impaired vision, Blindness, Bleeding inside the eye, Choroidal hypoplasia, Optic nerve head colobomas, Retinal detachment

Age of Onset

At birth

Present at birth

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

Low-moderate likelihood

At risk dogs may show signs of this disease in their lifetime, although many will not develop the condition due to absence of additional risk factors.

What to Do

Here’s how to care for a dog with CEA

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 CEA

Collie Eye Anomaly is primarily characterized by choroidal hypoplasia, leading to an underdeveloped vascular supply to the retina, and is especially visible temporal to the optic nerve. CEA lesions may be present in both eyes or asymmetric in nature. CEA-associated choroidal hypoplasia is non-progressive and usually does not cause visual deficits on its own. However, CEA has a range of clinical expressions. Vision impairment is more likely in dogs with the “extended CEA phenotype,” which may include optic nerve head colobomas, retinal detachment or intraocular hemorrhage secondary to coloboma(s) in severely affected dogs. Optic nerve head colobomas appear as excavations of the optic disc surface. Diagnosis of CEA lesions should be completed before 10 weeks of age, as retinal pigmentation can mask choroidal hypoplasia as the puppies grow, a phenomenon termed “go normal” by breeders. Research is ongoing to determine what additional genetic factors may be present that influence the range of severity seen in dogs with CEA.

There is no cure for Collie Eye Anomaly. Regular ophthalmic examinations are recommended for monitoring at risk or affected dogs. Treatment may be necessary for disorder-associated sequelae, such as retinal detachment. While visual deficits vary between affected individuals, many dogs show no noticeable loss of vision or adapt remarkably well to their vision status. For dogs with significantly impaired vision, owners should be advised that the dog may need assistance in unfamiliar surroundings. Owners may also find it helpful to keep the dog's main environment as stable as possible (avoid moving furniture, etc.) to help them navigate independently. And precautions to protect the dog from threats they may not visually detect (such as stairs, pools, etc.) should be taken.

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 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 Collie Eye Anomaly variant can be safely bred with a clear dog with no copies of the Collie Eye Anomaly 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 CEA 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: Recent research has suggested that additional genetic risk factors likely exist in some breeds that resemble or contribute to CEA risk, especially the more severe disorder expression. It is possible that disorder signs similar to the ones associated with this CEA variant could develop due to a different genetic or clinical cause.

Technical Details

Gene NHEJ1
Variant Deletion
Chromosome 37
Coordinate Start 25,698,028
Coordinate End 25,705,826

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Parker, H. G., Kukekova, A. V., Akey, D. T., Goldstein, O., Kirkness, E. F., Baysac, K. C., … Ostrander, E. A. (2007). Breed relationships facilitate fine-mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research, 17(11), 1562–1571. View the article