A number of tests are available for the Whippet. Two or more of these tests purchased as part of this bundle will be discounted.
- Collie Eye Anomaly associated with the NHEJ1 gene
- Phosphofructokinase Deficiency associated with the PFKM 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 have optic disc coloboma and retinal detachment.
Phosphofructokinase (PFK) is an enzyme that is involved in the use and regulation of glucose as an energy source. Disruption of the PFKM gene can result in a Phosphofructokinase deficiency that leads to muscles that fatigue very easily, because they cannot use energy very efficiently. Affected dogs display muscle weakness, an inability to exercise properly, or muscle cramping. Characteristic of the disease is a brown discolouration of urine, caused by the excretion of the muscle breakdown product myoglobin in the urine.
There is no cure for PFK deficiency and treatment is supportive and to minimise long-term damage.