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THE IMPORTANCE OF GENETICS IN BREEDING
CANINE HIP DYSPLASIA
People looking for a dog who have educated themselves know to ask about OFA (Orthopedic Foundation for Animals) ratings and also CERF (Canine Eye Research Foundation) clearances on both the parents and CERF on the puppy. But how important are these two registries to the overall genetic health of a breed? Let’s take a look inside the world of canine health.
OFA is the registry that issues an opinion as to the integrity of the canine hip as viewed via X-ray film. They also do the same for the front elbows, especially important for breeds pre-disposed to elbow problems. The problem OFA screens for is called Canine Hip Dysplasia, or CHD. Hip dysplasia is defined by the Oxford Concise Veterinary Dictionary as "Abnormal development of the hip joint causing a tendency for the head of the femur to slip out of the acetabulum." It can range from very mild and asymptomatic to severe enough to cause the dog to be euthanized. CHD can interfere with a dog’s quality of life by causing him pain upon activity of any sort. In a working breed such as the Aussie, it can be the end of a much-needed stockhand, the dog a rancher depended on to help him run his livestock operation efficiently. For the family dog, it can mean the end to long walks or runs in the park, trail hikes, horseback rides, Frisbee fun and general doggy stuff - the reason many of us got our dogs to begin with. Some milder cases or cases caught early on can be corrected with hip joint replacement surgery or surgery to rotate the hip socket into a more secure position, both very expensive options that may not guarantee full recovery.
For this reason, responsible breeders certify the hips of their breeding dogs to insure the best possible chance to avoid producing CHD. OFA issues ratings of Excellent, Good, Fair, Borderline, Mild CHD, Moderate CHD, Severe CHD. Ratings of Excellent, Good and Fair are non-dysplastic ratings; the rest are dysplastic. The non-dysplastic ratings refer to the degree of "mirror imaging" of the hips - the closer the two hip joints are to each other in appearance, the higher the rating. This depends upon the way the X-ray films are presented also. Ratings depend upon the best possible views of the dog’s hip joints. A poorly trained technician, poor development of the films, poor positioning of the dog and old film can all give a false view. The films are taken either under full anesthesia, partial anesthesia or none at all. It is the owner’s choice, and contrary to popular rumours, OFA does not favour one method over another. Their sole job is to examine the X-rays and issue a grade based upon the consensus of opinion of what 3 graders see in the films.
It is important to note here that CHD is rarely "environmental", meaning caused by outside influences, such as slippery surfaces. Hip joint conformation is determined by genetics. A good, solid hip joint is not going to be influenced by outside forces. Don’t let shady breeders pull this one on you. As of 1990, OFA has begun certifying canine elbows for freedom from one of the three forms of elbow dysplasia - UAP or ununited aconeal process; FCP or fragmented coronoid process and OCD, or osteochondritis dissecans. Elbows are radiographed and evaluated just the same as hips, and graded Normal, Grade I (minimal bone change on the aconeal process [abnormal]), Grade II (additional subchondral bone changes and/or osteophytes [abnormal]) or Grade III (well developed degenerative joint disease [abnormal]). As of December of 1998, 253 Aussies elbows had been evaluated with 4.0% showing up dysplastic.
A responsible breeder will use only breeding stock certified Fair or better, and Normal elbows. But just looking at the parents isn’t really enough. It is thought that the method of transmission of both CHD and the three forms of elbow dysplasia in dogs is POLYGENIC, meaning it takes many different sets of genes in a particular combination to produce CHD. Unlike SIMPLE RECESSIVES, which takes two parents with one recessive gene each to produce the anomaly, polygenic anomalies can pop up anywhere, anytime, when least expected. Two OFA Excellent parents could produce CHD affected offspring - especially if THEIR parents or siblings were dysplastic. Therefore, a responsible breeder will research thru the generations in a proposed breeding to identify potential problem areas for CHD. Did the maternal great-grandmother produce a lot of CHD? How about a littermate sister to the stud dog? Was there a maternal sibling with CHD? Knowing the answers to these questions will tell a breeder if the proposed breeding could produce CHD.
CHD is not totally avoidable in dogs. But thru better breeding practices, it can be reduced to acceptable levels. No breeder wants to produce a problem for their valued puppy owners-or put a dog thru the pain of CHD.
EYE PROBLEMS
CERF is the governing body for canine eye certification in the United States. CERF certifies canine ophthalmologists in the detection and reporting of canine eye defects. CERF is associated and works with the American College of Veterinary Ophthalmologists (ACVO). Together, CERF and ACVO are working to compile data on eye problems to determine whether or not problems are heritable or not; what effect breeding affected individuals has on the overall health of the breed; and mode of inheritance of problems. A breeder will certify breeding stock eyes yearly, or even every 6 months or just prior to a breeding, and then certify the puppies at between 6-9 weeks of age. In planning a breeding, the breeder should be aware of any problems associated with the lines he or she is using, and have at least a basic grounding in genetics so as to have a better understanding of the risks involved where there is a known problem(s) in the line(s).
Eye problems in the Australian Shepherd are relatively few for the moment. One of the most serious is Collie Eye Anomaly, or CEA. CEA is actually a group of eye defects, including chorodial hypoplasia (inadequate development of the choroid, the thin vascular layer between the sclera and the retina in the posterior portion of the eye); staphyloma (an area of corneal or scleral thinning lined by uveal tissue); iris and optic disc coloboma (abnormalities or missing parts of the iris or the optic disc; in effect, holes in the iris or optic disc); and other abnormalities of the retina and choroid. It can be diagnosed in puppies between 6-8 weeks of age. If it is diagnosed in a young puppy, then disappears (the puppy becomes asymptomatic), that puppy is then classified as a "go normal", meaning he is affected but shows no signs. CEA in the Aussie is a simple recessive; individuals from lines known to carry or produce CEA should be bred with the utmost care. Geneticists are working on a simple blood test to identify carriers, which will make the breeders job just that much easier. Severe CEA can cause blindness by 1 year of age
Cataracts are another potentially serious eye problem in the Aussie. There are two main types - anterior cortical, the most serious and the one that will cause blindness, and posterior cortical, which rarely causes any vision impairment. Anterior cortical is the most rare, but there are certain lines that do carry and produce it. Posterior cortical is by far the most common and least troubling; it can be produced by probably 80% of the foundation show dog Aussie lines going back to the original Flintridge dogs. Cataracts can affect one or both eyes (unilateral and bilateral). Bilateral cataracts are rarely environmental. The affected portion of the lens can range from a tiny pinpoint to the entire lens. Bilateral cataracts are assumed to be hereditary unless associated with a known trauma or inflammation. Unilateral (one affected) anterior cataracts are almost always the result of insult/injury to the eye. In 2008, it was announced that the gene for posterior cortical cataracts in Aussies had been identified and shortly there should be a simple blood test to determine carriers and affected among breeding stock and puppies. Again, breeders must research very carefully the lines they are thinking of using, especially if they have a known problem in their own lines. There are lines/families of dogs within a line that have not been known to produce cataracts. These are mainly the Fairoaks, Manchado, Casa Buena, Mighty Fine and Starstuff lines. If a breeder has a known problem, he or she would be wise to consider going out to a "clean" line to try and lessen the chance of producing a problem. There is no effective test-breeding programme for cataracts at this point in time.
OTHER EYE PROBLEMS
There are some other problems affecting the Aussie eye. Microphthalmia is a defect characterized by small eyes with associated defects of the cornea, iris, anterior chamber, lens and/or retina. Usually associated with the "white merle", the homozygous offspring of a merle-to-merle mating, in which the anomaly is most pronounced. Retinal dysplasia can be in the form of folds, usually a congenital defect; geographic, an irregularly shaped area of abnormal development not identified as a fold; and detachment, which can include either or both of the above anomalies along with separation (detachment) of the retina itself. Geographic and detachment will impair vision or bring total blindness; folds usually can and do resolve in less than a year depending upon the number of folds. The former two are known to be inheritable. Progressive retinal dystrophy (PRA) is a degenerative disease of the retinal visual cells leading to blindness. It is still fairly rare in the Aussie. Persistent pupillary membrane (PPM) is a congenital problem caused by a persistent fetal blood vessel remnant in the anterior chamber of the eye. PPM’s come in several different forms. Iris to iris, iris to cornea, iris to lens or sheets. Iris to cornea, iris to lens and sheets, when severe, can impair vision or cause complete blindness. Iris to iris generally resolves before 1 year of age. In some cases, unilateral cataracts can be caused by PPM’s. Persistent hyperplastic primary vitreous (PHPV) and persistent tunica vasculosa lentis (PTVL) are two similar congenital defects.
The high importance of knowing the lines being used and being aware of where problems have occurred cannot be overemphasized. Breeder honesty should come way before breeder ego; this isn’t always the case. Some breeders feel that even though their dog(s) produced serious problems, acknowledging that fact will be a smear on their name and their kennel name. So instead of helping other breeders avoid problems, they continue the problems or even worsen them by hiding them. This is highly detrimental to the breed! Being open and honest prevents the indiscriminate breeding of two potentially problem-producing dogs "just because". Breeding to the "top dog" just because of who he is with no consideration of lineage, pedigree and problems is a dangerous game of genetic Russian Roulette. A responsible breeder will (reluctantly) reject breeding his or her bitch to the top stud dog if such a breeding could cause problems. But the stud dog owners need to be just as careful. Collecting stud fees may seem a lucrative business; but if your stud is producing a lot of problems because you don’t screen his bitches, word will get around. By then, unfortunately, a great deal of damage will have already been done to the breed. A busy stud dog can produce 3 or more litters A WEEK. Extrapolate that out at an average of 6 puppies a litter, and that is 18 or more puppies a week for 52 weeks-a total of 936 or more puppies a year! And how many of those puppies went to the right homes? How many went to puppy mills, indiscriminate breeders or pet owners who "just HAVE to let Prissy have one litter before she is spayed"? All of those types of owners will perpetuate the problems.
It is important to find out how much a breeder really knows about simple genetics and about the problems in his/her lines, along with how much knowledge he/she has about the stud dog’s lines. Also, just why is the breeder doing this cross? Does he/she have a serious plan or goal in mind, or did he/she just choose the stud because of his name or titles? Does the breeder guarantee, IN WRITING, that a puppy will be free of genetic defects of the hip or eye? And most importantly, what is the breeder’s track record in making good on problem puppies? An irresponsible breeder will not return calls, will avoid contact with the puppy buyer at all costs, and will not make good on a problem puppy because that would be admitting they produced a problem puppy. And instead of finding out WHY they produced a problem puppy, they will continue to indiscriminately breed the same dogs again and again.
Genetic research is vitally important to the genetic health of the Aussie. It is every breeder’s responsibility to be a caretaker of this wonderful breed via good, sound breeding practices.
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