VITALLY IMPORTANT GLAUCOMA INFORMATION /DNA TEST - NEWS 

Health Tests for the Border Collie

Health Schemes

Eye Testing

• There are two types of P.R.A. C.P.R.A. is known to affect the Breed. The mechanism of inheritance remains unknown. Due to many year testing the incidences in the breed are now very rare. Testing should be carried out by a B.V.A. eye specialist regularly from 18 months to 2 years onwards.
• Litters of puppies should be tested for CEA and PLL around 6 weeks of age (however see below under DNA tests)
• Gonioscopy testing for the predisposition to Glaucoma should be carried out by a B.V.A. eye specialist (young puppies can not be tested)

DNA Testing

• CEA is produced by recessive genes a DNA test is available to test for carriers of the disease and all stock can be tested at various clinics throughout the year or directly with Opitgen. Due to the number of dogs already tested many are now clear by parentage.
• Ceriod Lipfuscinosis (C.L. for short) is a rare disease, which affects the nerve cells of the body. A DNA test is available and again many dogs are now clear by parentage.
• Trapped Neutrophil Syndrome (TNS for short) is an immune problem and resulted in failure for young pups to thrive and die. A DNA test is available and again many dogs are now clear by parentage.

Hearing Testing

• Breeders have now been tested for over 10 years, as yet we have not been able to establish the mode of inheritance and cases are very low in the breed. BVA Specialists and many breeders’ test their litters. Puppies and Adults can be tested. The AHT are now carrying out research and welcome swabs from any dogs that have been hearing tested regardless of the result.

Hip Scoring

• All breeding stock should be hip scored before breeding from them.

Glaucoma

Background

Information on glaucoma in the Border Collie came about when two dogs in Australia were confirmed as having glaucoma which lead the experts to think that it might be hereditary in the breed as in other breeds such as Flatcoats and Dandie Dimonts.

Since the first cases 3 have now been confirmed as having glaucoma in Australia, 3 on the continent and 2 in the U.K.

Where are we now?

We are testing for Goniodysgenesis, which is a different test to the normal eye tests most of us carry out at regular intervals with our Border Collies i.e. for PRA. PLL and CEA.

Eye test is for the predisposition to glaucoma and very few dogs that have Goniodysgenesis will go on to develop itself the milder cases almost never will develop narrow angled glaucoma the more severe cases will be at a higher risk.

Records on databases show that 248 Border Collies have been tested throughout the world and 35 have the predisposition to glaucoma and as stated above 8 have gone on to have glaucoma some of which have had to have eyes removed.

But we should not be complacent as we must wait to see the evidence in our own breed and clearly knowing the status of any breeding stock is essential, thinking few will go on to develop glaucoma but equally not panic.

We are seeing some unique characteristics appearing in the Border Collie not appearing in other breeds that have been studied.

Some results on the predisposition to Glaucoma have shown two unaffected parents producing affected off spring for the predisposition.

Dogs with Goniodysgenesis even in its mildest forms or with minimum changes when mated to normals are producing worse than themselves; this is not a pattern in other breeds with this condition.

Early onset has occurred in some cases at a much younger age than in other breeds.

The Way forward (at least until we know more)

1. Test all breeding stock regardless of pedigree – that can only help us to know how widespread this might be.
2. Disclose all results
3. Just because parents are clear does not mean at this time their progeny will be – we just don’t know.
4. Support to research – both by funding raising and be sending blood.

Canine Epilepsy Studies at the Animal Health Trust

Scientists and clinicians at the Animal Health Trust (www.aht.org.uk) are embarking on an exciting project to investigate the genetic basis of epilepsy in the Border Collie.   By combining the expertise of the clinicians to diagnose dogs with idiopathic epilepsy and state of the art genetic research capability we hope to identify the genetic factors that influence a Border Collie’s risk of developing epilepsy.

If the research is successful the end product will be a DNA test that can identify any Border Collie’s risk of developing epilepsy and passing it on to future generations.

The project is likely to take several years to complete but the first, and arguably most important, step is DNA sample collection.  Once sufficient samples have been collected we will analyze genetic markers distributed evenly across the dogs genome to identify those that are shared by all affected dogs and different from those carried by dogs that don’t suffer from epilepsy.  These markers will point us to the region's) of the DNA that contains mutation's) that are responsible for causing epilepsy.  Once we have determined the region of DNA that contains the mutations we can undertake additional experiments to identify the mutations themselves.

If we are to be successful we need DNA samples from dogs affected with idiopathic epilepsy and their close relatives, and also from unaffected dogs.  The DNA can be provided as a blood sample (if blood is being drawn from your dog for another purpose) or as a simple cheek swab. We would also appreciate a pedigree of all dogs that donate a sample so we can understand how the samples we collect are related to one another.  This will help us to understand the mode of inheritance of the condition and how many genes are involved.

All research is undertaken in complete confidence.  The identity of all samples submitted to the research effort will be kept confidential and the results from individual dogs will only be shared with the dog’s owner's, once the research has been completed.

If you have a Border Collie that is either:

a)      Affected with idiopathic epilepsy

b)     Closely related to a dog that is affected with idiopathic epilepsy

c)       Unaffected with epilepsy and over 7 years of age

please consider donating a DNA sample to this research project.

Many Thanks

Luisa De Risio, DMV, MRCVS, PhD, DECVN,

European and RCVS recognised specialist in veterinary neurology

Neurology/Neurosurgery Unit

Centre for Small Animal Studies

and

Cathryn Mellersh, PhD

Department of Genetics

Centre of Preventive Medicine

     generic sample submission from.pdf     consent form.pdf    declaration of contents for customs.pdf

     instructions for submitting a sample for tns testing.pdf    pedigree details.pdf   request for dna test for tns.pdf