Progressive Retinal Atrophy (RCD4 type)

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Find out if your Gordon Setter could develop Progressive Retinal Atrophy (RCD4) caused by PCARE at CAGT.

Categories ,
Turnaround 1-2 weeks
Breed(s) , , , , , , , , ,
OMIA OMIA001575-9615
Aliases , ,

Results from this test will be reported as detailed in the Registry Reporting list.


Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs; the retina detects light and sends images to the brain. Progressive degeneration of the retina at the back of the eye is characteristic of PRA and leads to vision loss and blindness. PRA is not painful to dogs, and the first signs of the disease tend to be bumping in to objects, such as a piece of furniture that has been moved. Mutations in different genes cause genetically different forms of PRA. It affects many different breeds of dog , but each genetically distinct form usually affects one or a small number of breeds.

Progressive retinal atrophy in the Gordon setter is caused by a mutation in a gene called PCARE (previously known as C2ORF71) and is indistinguishable from other forms of PRA in other breeds. It is also found in a number of other breeds. The average age of onset of clinical signs is quite late, around 10 years, but can be anything between 5 and 12 years. In humans, mutations in PCARE are associated with a condition known as Retinitis Pigmentosa, symptoms of which include loss of peripheral vision and the ability to see at night. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in PCARE will prevent further spread of this blinding condition in this lovely breed.

Autosomal Recessive

The single nucleotide insertion in the gene called PCARE that causes progressive retinal atrophy (PRA) in many breeds is recessive. This means that dogs that carry two copies of the mutation (homozygotes) will almost certainly develop PRA during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) will not develop PRA as a result of the PCARE mutation, but they will pass the mutation onto about half of any offspring they have. Breeding dogs that will not develop PRA should be the breeder’s priority, with a reduction in mutation frequency within the whole breed being the secondary, longer-term target.

Carriers can be bred from safely, provided they are mated to a dog that has also been tested and is clear of the PCARE mutation (i.e. carry no copies of the mutation). If a carrier is mated to a clear dog approximately half of the resulting puppies will also be carriers, so should be tested themselves prior to breeding. Breeding carriers to tested, clear dogs is safe, in terms of avoiding dogs affected with PRA, and will help to maintain the genetic diversity of a breed. It is therefore encouraged, particularly in the first few generations following the availability of a new genetic test, so that other desirable characteristics and traits can be preserved before the frequency of the disease mutation within the breed is gradually reduced.

Gene PCARE (previously C2ORF71/C17H2orf71)
Variant Single nucleotide insertion (c.3149_3150insC)
Assay Type Variant Specific
Inheritance Autosomal Recessive
Severity Low-Moderate: Affected animals experience discomfort or dysfunction of some kind, but life expectancy is not affected.

1. Downs LM, Bell JS, Freeman J, et al. (2013) Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.. Anim Genet. 44(2): 169-177. DOI: 10.1111/j.1365-2052.2012.02379.x.

2. Downs LM, Hitti R, Pregnolato S et al. (2014) Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol. 17(2): 126-130 . DOI: 10.1111/vop.12122.