Heath Rept 2010/2011

*on behalf of:
The English Springer Spaniel Club
The English Springer Spaniel Club of Scotland
The English Springer Spaniel Club of Wales
The Lancs & Cheshire English Springer Spaniel Club
The Southern English Springer Spaniel Society
The Midland English Springer Spaniel Society
The Northern English Springer Spaniel Society
The South Western English Springer Spaniel Club

BREED SPECIFIC HEALTH MATTERS

CHRONIC HEPATITIS RESEARCH PROJECT
The researchers at Queen’s Veterinary School, University of Cambridge, are continuing their investigations into the cause of Chronic Hepatitis in English Springer Spaniels. As at December 2010, they had around 80 affected cases on record, 22 of which were from 2010 alone. These numbers don't fully represent every case the researchers have heard of, as their data base only consists of cases for which they have received at least moderate amounts of information and/or blood/liver samples. They do occasionally receive information about other cases, but then hear no further.

The genetic studies (with the aim of identifying a specific gene/genes involved in the disease) are due to begin in Spring 2011. These require “control” blood samples from healthy English Springers aged 7 years or older that have never suffered from hepatitis. Disappointingly, significant problems were experienced in persuading owners to come forward and donate blood samples from their healthy, older ESSs in order to allow the researchers to maximise the chances of gaining meaningful results from the studies. Eventually, following persistent and repeated appeals, a sufficient number of control samples were obtained to enable the studies to go ahead. In the meantime, ongoing parallel studies are investigating the molecules involved in the activation of the immune system, in order to try to discover whether dogs with hepatitis may be more susceptible to viral infections or possibly immune-mediated disease.

Clinical and pedigree information and (ideally) blood samples from ESSs diagnosed with hepatitis remain essential to the researchers. Owners unfortunate enough to own an affected ESS have been reminded to ask their Vet to contact either of the researchers (Nick Bexfield or Penny Watson), ideally before any liver biopsy is performed, so that they can discuss the ideal techniques of taking and storing biopsies beforehand.

GONIODYSGENESIS/PRIMARY GLAUCOMA

Goniodysgenesis/Primary Glaucoma in ESS was moved to Schedule A of the official BVA/KC/ISDS Eye Scheme on 1st January 2009. Since that date, all gonioscopy test results have been recorded as either “Affected” or “Unaffected”, with the results automatically added to Kennel Club registration certificates and published in the Breed Records Supplement and on the KC website.

Prior to January 2009, under Schedule B of the Eye Scheme, gonioscopy test results were not required to be recorded as “Affected” or “Unaffected”, and they were not published by the KC. Consequently, there were some inconsistencies between the examining Ophthalmologists in how they recorded Schedule B results on test certificates, which made it difficult to use them for publication, for example on an official Breed Club website database.
In November 2009, the BVA Eye Panel Working Party agreed to a request made on behalf of the ESS Breed Clubs to review Schedule B certificates so that the results could be confirmed as either “Affected” or “Unaffected”, making them easier to understand and consistent with the format used for recording Schedule A results. Although these cannot be treated as “retrospective” Schedule A results under the Eye Scheme (i.e. they will not be added to registration certificates, or published by the KC), they will be eligible for inclusion on an official published ESS Breed Club website database.

Owners who submitted Schedule B Gonioscopy test certificates for review (free of charge), have now had their results confirmed by the BVA.

PFK (PHOSPHOFRUKTOKINASE DEFICIENCY)
PFK deficiency is an inherited enzyme storage disease which causes abnormalities in red blood cells and muscle cells. It is inherited in English Springer Spaniels through a single autosomal recessive trait. A DNA test for the disease has been available for some years.

In November 2010, following consultation with the English Springer Spaniel Breed Clubs, the Kennel Club approved a new official DNA testing scheme for PFK in the Breed.

Under the Scheme, the results of all PFK DNA test results carried out at The Animal Health Trust are automatically sent to the Kennel Club and recorded in the Breed Records Supplement, on the dog’s registration certificate and any progeny certificates, and on the KC Website.

Owners who have had their dog(s) DNA tested for this condition prior to November 2010 can send copies of the test certificate to the Kennel Club and the data will be added to the dog’s registration details. In addition, if the owner includes the original registration certificate for the dog (not a copy) then a new registration certificate will be issued, with the DNA result on it, free of charge. 

Further details on PFK can be found by visiting both the ESS Club www.englishspringer.org and the SESSS website at www.sesss.org.

PRA (CORD1 MUTATION)
Cathryn Mellersh (AHT) issued a statement to the Dachshund Breed Council and Breed Clubs (March 2011) concerning the PRA Cord1 mutation in the Miniature Long Haired Dachshund (MLHD). This is the same mutation that has been found to be a major risk factor for PRA in English Springer Spaniels, and for which a DNA test exists. Studies measuring ophthalmic behavioural abnormalities in the MLHD “have demonstrated unequivocally that the cone photoreceptors in the retinas of dogs with two copies of the Cord1 mutation (i.e. genetically affected) do not function normally, even though their retinas might appear normal upon ophthalmoscopic examination. This means that, even though the eyes of a dog with two copies of the Cord1 mutation may appear normal when examined by an ophthalmologist, the dog is unlikely to be seeing colour as it should or have normal visual accuity”.

The overwhelming conclusion from the intensive studies that have taken place in the MLHD is that the previously reported RPGRIP1 (Cord1) mutation, upon which the widely used DNA test is based, causes cone photoreceptors to malfunction and, together with an additional mutation in a modifying gene, causes early onset cone-rod degeneration.

It has to be accepted that, until a similar study can be carried out in our Breed (in fact a study was carried out in the USA some years ago on families of American bred ESS which came to the same conclusion as the one now described in MLHD by Cathryn Mellersh), we are advised to continue with the same policy breeding guidance in regard to PRA in the ESS as before.

The rule of thumb for breeding therefore is:

Breeders are advised to take a gradual approach to eliminating the mutation from their stock in order to avoid restricting the gene pool available and continue to maintain diversity (and not throw the baby out with the bath water).

NEVER mate two ESS who both carry two mutant copies of the RPGRIP1 (Cord1) gene.
Both carriers and affected dogs can be used to breed and need not necessarily be removed from the gene pool. However, they must ONLY be mated to dogs that are DNA tested genetically CLEAR, in order to avoid producing any “affected” offspring.
For carrier x clear crosses, half the offspring (on average) will be clear and half will be carriers. Litters from these crosses should be DNA tested to distinguish clears from carriers.
Genetically-affected x clear crosses will only produce carriers; there is therefore no need to DNA test these litters.

It would of course be highly beneficial for the Breed if we were able to conduct a study here on the UK population of ESS similar to that carried out on the MLHD. We continue to investigate and discuss opportunities to do so, but as yet have not been able to deal with the problem of how to get enough ESS to take part, as well as addressing the financial considerations. There is also the added concern of requesting owners to submit their dogs for ERG (electroretinogram), which means anaesthetising them first. We will continue to work with the AHT and hope that further studies may yet be possible.

We will continue to monitor the situation closely and advise ESS owners and breeders of any future developments.

Owners are reminded that further research into PRA is needed and therefore we still require owners/breeders to contact the Health Co-ordinators if either:

their dog is found to be genetically affected for the PRA Cord1 mutation but is clinically normal, or
their dog is clinically diagnosed with PRA but has been DNA tested and found not to be genetically affected for the Cord1 mutation.

EYE TESTING

The Southern ESS Society again provided eye testing facilities at their annual Championship Show in February 2011, with Professor Peter Bedford in attendance.
Nicola Calvert (Calvdale) again hosted an annual Eye Testing session at her home in the North East in October 2010. ESS owners/breeders are also encouraged to use the various eye testing facilities available throughout the year around the country.

Mr Ian Mason is the appointed BVA Chief Panellist.

KC ACCREDITED BREEDER SCHEME (ABS)

As part of its programme of development to ensure that the ABS is tailored to best suit the needs of individual breeds, the KC invited Breed Clubs and interested individuals to suggest refinements and amendments to the Scheme. In particular, changes relating to the ABS Breed-Specific Requirements and Recommendations (including health screening) have been, and can continue to be made.

In August 2010, a questionnaire was sent to the eight ESS Breed Clubs asking for their feedback on which breed specific health tests or breeding restrictions they felt should be incorporated within the Accredited Breeder Scheme, and whether these should be a requirement or a recommendation. The results of the questionnaire were collated, and, based on democratic consensus, proposals have been submitted to the KC for approval. We are currently awaiting their response.
Further information can be obtained from the KC website or from their Health and Information Department - email: info@thekennelclub.org.uk or telephone 0870 606 6750.

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