A number of tests are available for the Border Collie. Two or more of these tests purchased as part of this bundle will be discounted.
- Collie Eye Anomaly associated with the NHEJ1 gene
- Degenerative Myelopathy associated with the SOD1 gene
- Neuronal Ceroid Lipofuscinosis associated with the CLN5 gene
- Multi-Drug Resistance associated with the ABCB1 gene
- Primary Lens Luxation associated with the ADAMTS17 gene
Collie Eye Anomaly
*Optigen Officially Licensed*
Collie Eye Anomaly/Choroidal Hypoplasia (CEA/CH) is a developmental defect of the eye. Specifically, the abnormal development of the choroid – an important layer of tissue under the retina of the eye – in which there is a decrease in the development of the blood vessels. Puppies can be diagnosed by an ophthalmologist as early as 6-8 weeks of age. As the puppies get older the tapetum (the reflective layer at the back of the eye) develops and this can hide the signs of CEA. This phenomenon is called “go normal”, but it does not mean that CEA goes away or gets better. Affected dogs can also develop optic disc coloboma and retinal detachment.
Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of the variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.
Canine degenerative myelopathy (previously also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. Most dogs are at least 8 years old before clinical become apparent. DM usually starts with a muscle weakness, loss of muscle and loss of coordination (ataxia) in the hind limbs. Progression is generally quote slow, but dogs will eventually be crippled within approximately 3 years of the onset of disease.
Neuronal Ceroid Lipofuscinosis
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease found in dogs, humans, and other animals. It is characterised by the widespread accumulation of lipopigment in neurovisceral tissue and clinical signs of neurological disease. Onset of clinical signs of this form of NCL in Border collies can be from 15 months, but the age of onset of the disease is variable. Affected dogs develop ataxia and psychological abnormalities, including agitations, aggression, hallucinations, and hyperactivity. The disease is progressive and most dogs will lose the ability to coordinate functions such as house training, walking and eating. There is no treatment or cure, and as a result, affected dogs seldom live beyond 28 months of age.
In certain breeds a mutation on the ABCB1 gene, which encodes the MDR1 protein (which stands for Multi Drug Resistance 1) can cause animals that carry the mutation to be particularly sensitive to certain drugs. The variant was first detected in a subpopulation of dogs that were highly sensitive to Ivermectin-induced neurotoxicity. The variant on the ABCB1 gene results in the brain being unable to efficiently pump some drugs out, causing a toxic build-up of these drugs in the brain. Dogs subsequently experience and range of symptoms from vomiting and diarrhea to lethargy, seizures, or coma.
Primary Lens Luxation
Primary lens luxation (PLL) is a painful and potentially blinding inherited eye disease that typically affects dogs between 3 and 8 years of age and in many breeds is caused by a single nucleotide substitution in the ADAMTS17 gene.
PLL is the term given to the spontaneous displacement or movement of the lens from its normal position within the eye, as a result of rupture of the lens zonules that hold the lens in its normal position. The zonules are a network of tiny fibres that attach the edge of the lens to the ciliary muscle that circles the eye, in the same way that springs attach a trampoline to its frame. Following zonule rupture the lens usually moves to the anterior chamber at the front to the eye where it can cause damage and rapid onset glaucoma by obstructing the drainage of fluid out of the eye resulting in an increase of pressure within the eye. Glaucoma can cause irreversible vision loss if not treated quickly. PLL is invariably bilateral (occurs in both eyes), although a period of several weeks or months might separate luxation of the two lenses. Clinical signs of PLL include sudden onset of eye pain, clouding of the cornea (the front of the eye will look blue), redness of the “white” of the eye and a reluctance to exercise. PLL should be considered an emergency and veterinary assistance sought immediately.
Lens Luxation can also occur secondary to other primary eye disorders, including primary glaucoma, cataracts, inflammation and trauma.