PROGRESSIVE RETINAL ATROPHY IN GORDON SETTER

Progressive Retinal Atrophy (PRA) is a well-recognised inherited condition that many breeds of dog are predisposed to.  The condition is characterised by bilateral degeneration of the retina which causes progressive vision loss that culminates in total blindness.  There is no treatment for PRA, of which several genetically distinct forms are recognised, each caused by a different mutation in a specific gene.  The various forms of PRA are typically breed-specific, with clinically affected dogs of the same breed usually sharing an identical mutation.  Clinically affected dogs of different breeds, however, usually have different mutations, although PRA-mutations can be shared by several breeds. 

Mutation Identified

Geneticists at the AHT have identified a recessive mutation that is associated with the development of PRA in the Gordon Setter.  The DNA test we are offering (from March 14th 2011) examines the DNA from each dog being tested for the presence or absence of this precise mutation and is thus a ‘mutation-based test’ and not a ‘linkage-based test’. 

Other Forms of PRA

The research we have carried out to identify the PRA mutation has revealed that there are at least two forms of PRA segregating in the Gordon Setter.  The DNA test we are offering is for the mutation that causes one of these forms, which we are calling rcd4; the mutation that causes the additional form has yet to be identified. 

Our research indicates rcd4 is the most common form of PRA among Gordon Setters and the development of this test therefore enables breeders to slowly decrease the frequency of an important form of PRA in their lines.  However, because we know that at least one other form of  PRA exists within the breed, we cannot guarantee that any dog will not develop PRA, even if they are clear of the rcd4 mutation. 

Breeders using the test will be sent results identifying their dog as belonging to one of three categories:

CLEAR: these dogs have two normal copies of DNA.  Clear dogs will not develop PRA as a result of the rcd4 mutation, although we cannot exclude the possibility they might develop PRA due to other mutations they might carry that are not detected by this test.

CARRIER: these dogs have one copy of the mutation and one normal copy of DNA. These dogs will not develop PRA themselves as a result of the rcd4 but they will pass the mutation on to approximately 50% of their offspring.We cannot exclude the possibility that carriers might develop PRA due to other mutations they might carry that are not detected by this test.

GENETICALLY AFFECTED: these dogs have two copies of the rcd4 mutation and will almost certainly develop PRA during their lifetime.  The average age of diagnosis for dogs with rcd4 is 10 yo, although there is considerable variation within the breed.

Advice

Our research has demonstrated that the frequency of the rcd4 mutation in Gordon Setters is high and as many as 50% of dogs might be carriers. The mutation is recessive which means that all dogs can be bred from safely but carriers and genetically affected dogs should only be bred to DNA tested, clear dogs.  About half the puppies from any litter that has a carrier parent will themselves be carriers and any dogs from such litters that will be used for breeding should themselves be DNA tested prior to breeding so appropriate mates can be selected. 

It is advisable for all breeding dogs to have their eyes clinically examined by a veterinary ophthalmologist prior to breeding and throughout their lives so that any cases of PRA caused by additional mutations can be detected and that newly emerging conditions can be identified.