The
genetic disorder, prcd-PRA , causes cells in the retina at the back of the eye to degenerate and die, even though
the cells seem to develop normally early in life. The “rod” cells operate in low light levels and are the
first to lose normal function. Night blindness results. Then the “cone” cells gradually lose their normal function
in full light situations. Most affected dogs will eventually be blind. Typically, the clinical disease is recognized first
in early adolescence or early adulthood. Since age at onset of disease varies among breeds, you should read specific information
for your dog. Diagnosis of retinal disease can be difficult. Conditions that seem to be prcd-PRA might instead be
another disease and might not be inherited. OptiGen’s genetic test assists in making the diagnosis. It’s important
to remember that not all retinal disease is PRA and not all PRA is the prcd form of PRA. Annual eye exams by a veterinary
ophthalmologist will build a history of eye health that will help to diagnose disease.
Prcd-PRA is inherited as a recessive trait. This means a disease gene
must be inherited from each parent in order to cause disease in an offspring. Parents were either “carrier” or
affected. A carrier has one disease gene and one normal gene, and is termed “heterozygous” for the disease. A
normal dog has no disease gene and is termed “homozygous normal” – both copies of the gene are the same.
And a dog with two disease genes is termed “homozygous affected” – both copies of the gene are abnormal.
It’s been proven that all breeds being tested
for prcd-PRA have the same disease caused by the same mutated gene. This is so, even though the disease might develop
at different ages or with differing severity from one breed to another.
Although prcd-PRA is inherited, it can be avoided in future generations by testing dogs before
breeding. Identification of dogs that do not carry disease genes is the key. These "clear" dogs can be bred to any
mate - even to a prcd-affected dog which may be a desirable breeding prospect for other reasons. The chance of producing
affected pups from such breedings depends on the certainty of test results. Again, you’ll find the specific information
on certainty of test results for your dog by linking to breed specific information.
The Genetic Test
The OptiGen prcd test is done on a small sample of blood from the dog.
The test analyzes the specific DNA mutation causing prcd-PRA. The OptiGen test detects the mutant, abnormal gene copy and
the normal gene copy. The result of the test is a genotype and allows separation of dogs into three groups: Normal/Clear (homozygous
normal), Carrier (heterozygous) and Affected (homozygous mutant).
Possible results using the OptiGen prcd test |
Genotype | Risk Group | Significance
For Breeding | Risk of prcd
Disease |
Homozygous
Normal | Normal/Clear | Can be bred to any dog, extremely low risk
of producing affecteds | Extremely low |
Heterozygous | Carrier | Should be bred only to Normal/ Clear to remove risk of producing
affecteds | Extremely low |
Homozygous
Mutant | Affected | Should be bred only to Normal/ Clear to remove
risk of producing affecteds | Very high |