Late on-set PRA in Gordon Setters
As a member of the British Gordon Setter Club, we would like to make you aware of a recent discovery that Progressive Retinal Atrophy (PRA) has been identified in a small number of Gordon Setters. PRA is a collective term for a group of inherited diseases of the retina, all of which are currently incurable and will ultimately lead to blindness.
Although PRA is present in many breeds of dog Gordon Setters were not thought to be affected. It now appears that the PRA recently diagnosed in some Gordon Setters is a late onset form, with dogs not showing any symptoms until they are approximately 7 years old, or older, this late onset may have contributed to it’s poor detection. At this time no genetic test exists to identify Gordon Setters that may be either clear of, affected by or carriers of, this form of PRA however we are working along with the other breed clubs to try to establish a DNA test.
What the BGSC has done?
We have taken this health issue very seriously from the outset and thank
all those involved in bringing it to our attention.
Information & a report on PRA can also be found on our clubs
website.
We arranged a Question & Answer session on PRA with Jeff Sampson a Geneticist from the Kennel Club, open to all members and non members at our Open show on June the 6th.
We have arranged Eye testing with Prof Peter Bedford at the Championship show Oct 3rd 2009, Cricket Connexion, Ryton On Dunsmore, Coventry. This is provided by the BGSC Free to dogs/bitches entered in Vintage/Veteran classes and available to all others at the group testing cost of £22, which is the BVA fee + £2 donation to AHT. Please note we will be applying to the Kennel Club for special permission to allow Gordon Setters not entered for competition access for eye testing purposes only. Full details will be contained in the Show Schedule, please contact the secretary for full details.
We listened to the members at the AGM and followed their expressed wish to work solely with the Animal Health Trust (AHT) on this health issue.
We asked the AHT to give us an indication on the level of funding that would be needed to establish a genetic screening test. We were informed by the AHT, it could cost in the region of £15,000, with around £10,000 to be secured before research begins.
The BGSC, having already made a small initial donation, will be donating £5,000 towards this project. These funds represent some 23% of the clubs available resources and your committee feel that this will leave a sufficient balance for the on going needs of the club. It is our hope that the club will be to able to replenish this money by fundraising and donations, to establish a health fund balance sufficient to enable the BGSC to again provide substantial funds immediately should a future health issue arise.
We have established from the AHT that further samples of DNA are needed before research can proceed, from dogs or bitches eye tested & diagnosed affected with PRA or dogs over the age of 10 eye tested & diagnosed clear of PRA.
What can you do?
The first thing to remember is that PRA is not life-threatening, and that this potential strain of PRA does not manifest itself until the dog is 7 years or older.
If you have a Gordon Setter of 7 years old, or over, then you should get
its eyes tested especially if you suspect a problem with its sight. This test
should be carried out by an Ophthalmic Specialist on the BVA/KC panel - a
list of which is attached. It is a simple painless procedure involving eye
drops and only takes a few minutes.
We would also ask you to contact your breeder with the result of the eye test.
Please remember that your dogs KC Registration Document is needed when
you attend eye testing.
If your dog is diagnosed with PRA or is over 10 and clear of PRA, we ask that you provide a sample of your dogs’ DNA, this can be done by contacting AHT for a free DNA cheek swab. Email dna@aht.org.uk or contact us and we can arrange for the swab to be sent to you.
If you are a breeder/stud dog owner, we urge you to contact all of your stock over the age of 7 whose owners are not members of the BGSC, enquire on their dogs health, inform them of the recent discovery of PRA in Gordon Setters and encourage eye testing, they may be able to help us.
We recommend that all your dogs/bitches are eye tested annually until such a time as we have the DNA test and hope that you are open in regards to health matters when considering future breeding programs.
Further updates on this health issue will be published on the BGSC website and in the Gordoner as it becomes available.
If you would like to make a donation towards the cost of the research into
PRA in Gordon Setters, cheques should be made payable to the BGSC
& sent to the Secretary, envelopes clearly marked Gordon Setter PRA Research
Fund.
Please DO NOT send donations directly to the AHT as these
will not be used specifically for Gordon Setter PRA Research, but will be
subsumed into their general funds.
August 2010 EXCITING NEWS, Animal Heath Trust PRA Update
Please read the Canine Genetics Progress Report regarding Progressive Retinal Atrophy
February 2010 Update
Please read the Canine Genetics Progress Report regarding Progressive Retinal Atrophy
October 09 Update
The BGSC health fund paid for dogs entered in Vintage or Veteran Classes at the Championship show to have their eyes tested for PRA by Prof Peter Bedford. This facility was also open to all other exhibits at a reasonable fee.
DNA sampling kits were also available, if required.
33 dogs had eye tests and Prof Peter Bedford reported to us that he found NO PRA affected amongst them.
September 09 Update
The AHT has informed us that they have DNA samples from 12 or possibly 15, PRA affected dogs and 13 samples from unaffected dogs of 10 years or over, this gives them the minimum number of samples to move forward with the testing once they have the SNP Chip.
They will be running tests on multiples of 12 samples and aim for at least 36 samples by the time the SNP chip arrives. They stress that further samples from either affected dogs & unaffected over 10’s are needed.
With the start of the project in sight the BGSC has provided the AHT with the promised Funding of £5,000 representing 23% of our clubs available funds and a further £317.00 donated by our generous members. With the funding provided by the other 2 breed clubs this should give the £10,000 required by the AHT for the project
The AHT inform us that should further funding be required they will make an application to the Kennel Club Charitable Trust and possibly other funding bodies on the breeds’ behalf.
August 09 Update
Problem Your dog can’t have a PRA eye test because he has cataracts
Solution If a dog has a standard eye test & the tester cannot see the retina because the dog has cataracts, there is a test that can be carried out, without anaesthetic, to look at the retina behind the cataract to see if there is retinal Atrophy. It is used by AHT as a standard test prior to cataract operations to see if it is worth doing, as if the retina is damaged removing the cataract is pointless. The test is an Electro Retina Gram or ERG, which takes the form of what looks like a contact lens with a very fine wire attached to it being put into the dogs eye & a tiny acupuncture needle attached to a computer being inserted under the dog's skin to monitor the electronic impulse from the dogs eye to the brain when a flash of light is sent across the contact lens. The whole thing takes about 1/10th of a second & is totally painless. This test can be done by AHT following referral from the owner's vet or at the BVA Veterinary College.
July 09 Update
The BGSC has been advised by the AHT that a new piece of software is being developed to carry out the Whole Genome Scan which will upgrade the current 22,000 genetic markers available to AHT to 200,000 and will greatly improve their ability to carry out research into a DNA marker for Late Onset PRA in Gordon Setters. This will take approx 4-5 months to develop and the AHT intend to wait for this upgrade before they start the research to try to find the Gordon Setter PRA DNA marker. This will also give them time to collect the requisite number of DNA samples for the research, which they still do not have. The AHT currently has 11 samples form dogs reported to have PRA and are hoping shortly to obtain another 4 from affected dogs. However, they do not have the required number of 'control' DNA samples form those Gordon’s with unaffected eye tests, as despite the fact they have 16 samples, the ones required for research are those from Gordon’s 10 years old and over of which they only have 6. The AHT needs at least as many 'control' samples as affected samples to do the research, so if your dogs eyes are tested and they are clear, please ensure a DNA swab is made available to AHT.
It should also be noted that despite a recent statement in the dog press
that if a dog is eye tested and has a clear examination, this does not necessarily
mean they are free from PRA as until the genetic test is available, nobody
can state their dog is Late on-set PRA Clear, as they could possibly be an
unaffected carrier. In today's world of litigation and compensation, breeders
need to be very careful with any wording relating to this condition until
all the scientific facts and required tests are available.
The following dogs/bitches have all been tested for PRA and clinically diagnosed Affected, permission to publish their names has been sort by the BGSC and granted by their owners.
Kewstoke Apprentice – Dog (bred from)
Hernwood Dream Mirage of Kilnrae – Dog (bred from)
Kewstoke Keirag – Dog
Kewstoke Celtic Commander – Dog
Int Ch Lourdace Callas – Bitch
Laurelhach Never Forgotten – Bitch
Diptonia North & South – Dog
Benagin Prince of Glencoe – Dog
Kewstoke Coral – Bitch
SH CH Carek Wild Horse (Dog)
Blackstock Lightning of Arborsette, Bred from Arborsette Acer Davidii JW
Arborsette Aesculus Indica
Benbuie Be Brave for Amanorty
Balnakeil A' Chailleach
Sunsetter's Good Day Sunshine
Sunsetter's Yellow Submarine
We are aware that there are other PRA affected dogs/bitches and this
list will be updated as permission is granted from their owners.
Canine Genetics Progress Report
Breed: Gordon Setter
Condition: Progressive Retinal Atrophy
Date: April 1st, 2009
Recent / Current Funding: This project is currently unfunded
Sample Collection and Current Progress
The AHT currently holds samples from 20 Gordon Setters. Eight samples are from dogs that are affected, or are possibly affected, with generalised progressive retinal atrophy (gPRA).
It is very important that the AHT is told about any relevant health changes that occur to any of the dogs we hold samples from. For example, if any of the dogs develop gPRA after their DNA sample has been submitted to the AHT it is very important the AHT is informed. Dogs that are incorrectly categorised as ‘unaffected’ when they are in fact affected (or vice versa) can seriously confound genetic studies.
The AHT will very shortly test the DNA from the affected dogs to see whether they carry any of the PRA mutations we currently know about, or that we are currently investigating. If they do then it will be a relatively simple task to make a DNA test a available for the Gordon Setter. If they do not carry any of the known mutations then additional samples, and additional funding, will be necessary for the research to progress. We will need samples from additional affected dogs and also samples from additional older, clinically unaffected dogs, to act as controls. gPRA in the Gordon Setter appears to be a very late onset condition so the controls similary need to be older dogs. We therefore need samples from dogs who have had a clear eye report over the age of at least 10 years.
To request a DNA swab sampling kit please email Lisa Jeffery
For more information about the project please email canine.genetics@aht.org.uk
Progressive retinal atrophy (PRA) is the collective term for a group of inherited diseases of the retina, all of which are incurable and invariably lead to total blindness. PRA is known to affect many breeds of dog and characteristics such as the age at which with the disease progresses can vary from breed to breed. In some breeds the age of onset is very early but with other breeds, dogs may not start to go blind until they are well into middle age, or even older. Unfortunately, it is a late onset form of PRA that our lovely breed appears to suffer from.
Some of the members of the committee will remember Kewstoke Apprentice in the show ring as a total extrovert and a real handful for me. Apart from his blindness he is still a totally fit and healthy dog. His degree of vision now is zero, a year ago it was moving shadows, now even in the brightest sunlight he walks into every obstacle.
It was two years ago that I realised that there was definitely a problem with Will’s eyesight, he was then eight years old. Up until then I had been unaware that the disease PRA was such an issue in dogs. Interestingly, he had been eye tested at Crufts in his youth of course there had been no indication then. A copy of one of his clear eye tests taken when he was 5 years old is attached.
The initial symptoms were unwillingness to go outside at dusk or night and unusually for him, panic when faced with a dim situation on a walk, heavy shading in woodland would spook him. He simply refused to walk in places like that.
I made a decision in 2005 to leave the UK and live in France and later Portugal. In May 2008 I returned to the UK and with a referral took Will to see Mr. Paul J. Evans, MA, VetMB, CertVOpthal, MRCVS at his Veterinary Eye Hospital in Leominster. I was full of hope that I would be able to help my lovely boy to regain his sight, how disappointing to learn the facts. A copy of his report is attached. Total blindness was inevitable and we must learn to live with it. Then the real issue for me was to compile all available information, so that as a group the Gordon Setter fraternity are no longer ignorant of the facts.
The only thing I can do is tell the committees of our breed clubs, the Breed Council and with your permission to go public so that every single member of the British Gordon Setter Club, Gordon Setter Association, Gordon Setter Club of Scotland and Field Trial Society is made aware of this debilitating disease. More importantly though to help each person involved in dogs to understand how with joint effort this problem can be avoided. Sharing knowledge is our ally. I have researched thoroughly, the following information has been verified by Dr Malcolm Willis, well recognised for his work in genetics and my thanks also go to Dr. Cathryn Mellersh from the Animal Health Trust for her guidance.
Dr. Willis made a couple of suggestions which are:
To record dogs ID with the blood samples
To circulate this report immediately to members of all UK Gordon Setter organisations, clubs, societies.
For the breed clubs and societies to recommend that the advice given in this report be acted upon by members in regard to tracing and collecting blood samples of affected dogs.
As responsible breeders it has become second nature to us to screen for HD with the BVA hip dysplasia scheme, which has resulted in the average hip score now much improved since it became one of the breed clubs’ code of ethics. Latterly, many also consider it important to gene test for the liver pigment.
To date several genetic mutations have been identified that cause PRA in different breeds. It is important to understand that there are different forms of PRA and PRA in different breeds can be caused by different genetic mutations. The mutation causing the PRA in the Gordon Setter is not one previously identified in other breeds, I have received advice from Optigen regarding the Kewstoke Apprentice blood sample, there is no similarity with any other genetic mutation already available in a DNA test. Which is a great pity for us all, as much time would have been saved in the search for a DNA test for the Gordon Setter. The American company ‘Optigen’ will (free of charge) test a blood sample from any affected (blind) dog, to forward their research for a gene test. www.optigen.com Closer to home the Animal Health Trust also does extensive research into genetic disorders and they too will help with trying to locate the mutation responsible. All that is needed in the first instance, is for owners that have a dog that they are concerned can’t see as well as it should, to have a canine ophthalmologist confirm that it is PRA, then submit a blood sample (preferred) or if not, then a cheek swab to the AHT. Donating a sample is free and all information kept in the strictest confidence. For active research to begin it will be necessary to collect samples from at least twelve affected dogs, these samples can be collected over time and will be safely stored by the AHT & Optigen until sufficient have been collected. This number would give the genetic researchers enough material to start work on identifying the mutation responsible for PRA in the Gordon Setter. Blood samples from siblings or offspring of the affected dogs are also necessary. Finally, samples will also be needed from unaffected dogs. Because PRA is probably a late onset condition in this breed, unaffected dogs should have had a clear eye examination over the age of 10 years.
Once a gene test is available, then all puppies simply have the gene test to verify their genetic status. The carriers can still be used in a breeding programme so long as they are only ever mated with a DNA tested clear dog. That way breeding blind dogs is avoided, and dogs which have many other excellent attributes are still kept in the gene pool. Gradually the disease will be eliminated, as we endeavour to keep the clear dogs and use the KC registration endorsement to protect the future Gordons. Our breed clubs can introduce this into the Code of Ethics in the same way that the BVA/HD scoring came into practice.
Some members are under the misapprehension that a simple eye test with the vet will tell them that their dog doesn’t have PRA, I hope that the following information will explain the disease more clearly.
PRA is usually caused by an autosomal recessive mutation. This means that a dog must inherit two copies of the mutation, one from its sire and one from its dam for it to be affected. It also means that both parents of an affected dog must be carriers. If a dog inherits a single copy of the causal mutation from either of its parents and a normal copy of the same gene from the other parent then it will be a carrier: it will never develop PRA during its lifetime but will pass the mutation on to approximately half its offspring.
If the dog inherits two copies of the mutation it will develop PRA, but its eyes will be healthy until it reaches the ‘age of onset’ and clinical signs begin to develop. If an ophthalmologist examines a genetically affected dog before it begins to display clinical signs he/she will not be able to tell if the dog is affected and the dog will receive a clear eye certificate. An ophthalmologist can only tell a dog is genetically affected once the clinical signs of PRA have begun to develop. Then to further confuse us, secondary cataracts can also develop, frequently the local vet will attribute the early blindness to cataracts and the real cause is overlooked.
There are various scenarios for transmission, which given the limited gene pool for the British Gordon Setter increases the odds of the disease occurring. Two thirds of canine genetic disorders are recessive.
To explain this inheritance pattern:
GREEN DOGS - CLEAR
YELLOW DOGS - CARRIER
RED DOGS - AFFECTED
RED DOGS - AFFECTED
Affected dogs will not show signs of the disease until approximately 7 years of age, having a vet check the eyes in the younger years will not tell you whether your dog is clear, carrier or affected. All of us with dogs over the age of about 10 that have received the all clear from an ophthalmologist can be assured that those dogs are either (green) clear or (yellow) carrier.
1. When two green dogs are mated, both parents being clear of the disease, all the puppies will be genetically clear.
2. When one parent is (green) clear and the other is a (yellow) carrier, approximately half of all the puppies will be (green) clear and half will be (yellow) carrier, meaning 50% of the litter will be carriers.
3. When one parent is (green) clear and the other is (red) affected then all of the puppies will be (yellow) carriers.
4. When both parents are (yellow) carriers, then on average a quarter of their puppies will be (green) clear, a quarter will be genetically affected (red) and half will be (yellow) carriers. That’s 75% of the litter with mutant genes.
5. When one parent is (yellow) carrier and the other parent is (red) affected then half the puppies will be (yellow) carriers and half will be (red) affected.
6. When both parents are (red) affected then all the offspring will be (red) affected.
In order to prevent PRA becoming endemic in Gordon Setters it is our responsibility as custodians of the breed to act now and share information. I have gone back to all previous litters, contacting as many buyers as possible in a relaxed and friendly manner, (so as not to cause alarm) and always included this question. ‘Has there been any blindness?’ Here are the results, together with the names of the parent dogs.
1999 ~ When I mated Kewstoke Kiss me Kate (definitely a carrier ~ died at 13 stone deaf but good eyesight)(Sh Ch Kewstoke Bryony Belle X Northinch Briar at Keepersgate) with Shannas Family Fortune (Sh Ch Wickenberry Philosopher at Liric X Sh Ch Shannas Midnight Shadow), both parents must have been carrying the recessive gene. In a litter of eight puppies, Will (Kewstoke Apprentice) and one other female sibling have the disease now. As Will has sired puppies all of his offspring will be carriers.
In 1998, I mated Kewstoke Caernie (Sh Ch Kewstoke Bryony Belle X Northinch Briar at Keepersgate) with Carek Dark Command (Shannas Family Fortune X Carek Bluebelle), both parents must have been carrying the recessive gene. From a litter of 9, I have been able to contact 7 owners there is 1 case of diagnosed PRA where the dog has been totally blind for the past 18 months. One bitch from the litter went to a show home and has been used in a breeding programme, there is 75% possibility that she will have been a carrier.
The owners of Carek Dark Command and Shannas Family Fortune should be asked to advise the committee whether these two dogs went blind with similar symptoms, if so at what age. Blindness in them will confirm that not only are they carriers, but also affected (red dogs) meaning that 100% of their offspring will also be carriers.
Judi Hartley (Arborsette) bred a litter using her Clementine and Monty.
1997 Blackstock Lightning (Blackstock Mist X Lourdace Gandolf at Amanorty) with Sh Ch Oaksett Northern Rising (Brimdale Mirage of Oaksett X Lourdace Muezli of Oaksett, it transpired that the dam was affected, she lost her sight at 9 years and the sire must have been a carrier as from 8 pups, 3 have developed PRA and are now blind. It is heartbreaking enough to have one of your darlings loose their sight, imagine how she feels now that two of the sons that she and David kept are both affected also.
It is highly unlikely that we two are the only persons in the UK to have bred Gordon Setters which developed PRA, is it?
I adore the Gordon Setter and never wish to be involved in any other breed. I have no wish to be ostracized by fellow members for making the subject of PRA an issue, but unlike the vision it won’t disappear.
Perhaps like me there are many members who were simply unaware. I hope that there are enough of you prepared to do the right thing, be honest and give support now to our breed and make the changes happen.
Wendy Smith 7th February 2009
Please note - Since the initial circulation of this article, I have received confirmation from the owners that neither Shannas Family Fortune or Carek Dark Command went blind in their old age, which confirms that they were both carriers (yellow).
I have also received information on other dogs which went blind before 10 years of age and although not diagnosed with PRA were showing the same late onset symptoms. I am in the process of compiling a list of the affected dogs and carriers. This is only the tip of the iceberg, for every dog that develops PRA there will be many carriers in the breed.
The Gordon Setter organisations to which most of us have membership are now proactive and are in the process of collating some helpful information and guidance.
Wendy Smith 24th February 2009
