Tests

CERF

An eye exam performed by a board certified Veterinary Ophthalmologist.  This exam looks for a multitude of eye diseases.  Annual re-examination is recommended for all dogs.  The CERF (Canine Eye Registration Foundation) database provides a registry of dogs that have been certified free of heritable eye disease.  For more information on CERF examination and the categories of disease that are tested for visit www.vmbd.org

Prcd-PRA
The genetic disorder Progressive Rod-cone Degeneration-Progressive Retinal Atrophy, 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 result is declining vision and eventual blindness.  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 go blind. It’s important to remember that not all retinal disease is PRA and not all PRA is the prcd form of PRA.  DNA testing will make the diagnosis, prior to the onset of disease. 

Inheritance
Prcd-PRA is inherited as a recessive trait in most cases. This means a disease gene must be inherited from each parent in order to cause disease in an offspring. Parents were either clear, 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. 

Hips & Elbows(OFA)
The Orthopedic Foundation of Animals provides a database of inheritable canine diseases, including but not limited to hip and elbow dysplasia, caridac, and thyroid disease.  Hip testing is done via a radiograph that is examined by the specialists at OFA. The dogs with normal hips will be given a rating of Excellent, Good or Fair.  There are also ratings for dysplastic hips ranging from borderline to severe.  Preliminary hip radiographs can be done at as young as four months of age.  The official hip report is not done until the dog has reached two years of age.  Currently, the Miniature Australian Shepherd ranks 102 out of 157 breeds, with a dysplastic rate of 8.6 percent.  Visit www.offa.org for more information on canine hip dysplasia. 

HSF4
The typical inherited cataract involves both eyes, and is present on the back side of the lens, these cataracts usually begin in an outer layer of the lens. Cataracts can usually be detected during a CERF eye exam on an adult, but they can appear at any age. The progression of cataracts varies in each dog diagnosed. Some progress very slowly that the dog will retain functional vision, if not full,  throughout their lives. While others are so affected that they become blind in a very short period of time. Also some Aussies will develop cataracts in one eye while the other might not show any evidence for months.  There is now a DNA test available for the presence of the HSF4 gene.  As with prcd-PRA dogs can be clear, carriers or affected.  All dogs testing as affected, or carrier WILL develop cataracts.

MDR1
In dogs affected with MDR1, the blood brain barrier is comprimised. This gene encodes a protein, P-glycoprotein, that is responsible for pumping many drugs and other toxins out of the brain. Dogs with the mutant gene can not pump some drugs out of the brain as a normal dog would, which may result in abnormal neurologic signs. The result may be an illness requiring an extended hospital stay--or even death.  It is well known that all sizes of Australian Shepherds and related breeds can have adverse reactions to drugs such as ivermectin, loperamide (Imodium®), and others. DNA testing is now available through Washington State University. 

Dogs that are affected by MDR1 will have a sensitivity to Ivermenctin and other related drugs. 
Dogs that are carriers of MDR1 may experience some sensitivity to Ivermectin and other related dogs. 
Dogs that test clear for MDR1 should not exhibit any drug sensitivities.

Here is a list of Medications that should be avoided if the status of an aussies MDR1 status is not known:
Acepromazine (tranquilizer and pre-anesthetic agent)
Butorphanol (analgesic and pre-anesthetic agent)
Erythromycin
Ivermectin (antiparasitic agent)
Loperamide (ImodiumTM; antidiarrheal agent)
Selamectin, milbemycin, and moxidectin (antaparasitic agents)
Vincristine, Vinblastine, Doxorubicin (chemotherapy agents)
Domperidone
Etoposide
Mitoxantrone
Ondansetron
Paclitaxel
Rifampicin

Drugs that are known to be pumped out of the brain by the protein that the MDR1 gene is responsible for producing but appear to be safely tolerated by dogs with the MDR1 mutation:
Cyclosporin (immunosuppressive agent)
Digoxin (cardiac drug)
Doxycycline (antibacterial drug) 

Drugs that may be pumped out by the protein that the MDR1 is responsible for producing, but appear to be safely tolerated by dogs with the MDR1 mutation:
Morphine, buprenorphine, fentanyl (opioid analgesics or pain medications)

HSF4
CEA affected puppies appear normal. The defects are within the eye and cannot be detected without special instruments. Positive diagnosis can only be made by a veterinary ophthalmologist or with the DNA test. The specific defects the examiner will note are choroidal hypoplasia (chorioretinal dysplasia), optic nerve coloboma/staphloma and, rarely, retinal detachment. Both eyes will be affected but the specific defects may differ from eye to eye.

Some CEA puppies are masked affecteds. (This was once called "go normal.") They appear normal on exam because normal pigment development in the back of the eye sometimes covers the defective areas preventing observation. Masked affecteds have two copies of the mutation. Any offspring they produce will be carriers. It is important that all puppies be examined no later than 8 weeks of age to get them properly diagnosed.

CEA is present at birth and does not progress. CEA puppies behave normally. Few will be so blind that the disease noticeably affects them. CEA does not cause the puppy any pain or discomfort. Affected animals should never be bred; but if they are not blind they can live happy and productive lives.