Progressive Retinal Atrophy (PRCD type)

Find out if your dog could develop Progressive retinal atrophy at CAGT.

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Overview

Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
Progressive Rod Cone Degeneration (PRCD) is a form of PRA and was one of the first PRAs for which a genetic variant was identified. PRCD is different than most forms of PRA in that the variant has been found in a large number and diverse range of breeds.

Autosomal Recessive

The single base substitution in the gene called PRCD that causes PRCD Progressive retinal atrophy in many breeds is autosomal recessive. This means that dogs that carry two copies of the mutation (homozygotes) will almost certainly develop Progressive retinal atrophy during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) will not develop Progressive retinal atrophy as a result of the PRCD mutation, but they will pass the mutation onto about half of any offspring they have. Breeding dogs that will not develop Progressive retinal atrophy 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 PRCD 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 Progressive retinal atrophy, 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 PRCD
Variant Base Substitution c.5 G>A p.Cys2Tyr
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.
Publication

Moody JA, TR Famula, RC Sampson et al. (2005) Identification of microsatellite markers linked to progressive retinal atrophy in American Eskimo Dogs. American Journal of Veterinary Research. 66(11): 1900-1902 . DOI: 10.2460/ajvr.2005.66.1900.

Zangerl B, O Goldstein, AR Philp et al. (2006) Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics. 88(5): 551-563 . DOI: 10.1016/j.ygeno.2006.07.007.

Kohyama M, N Tada, H Mitsui et al. (2016) Real-time PCR genotyping assay for canine progressive rod-cone degeneration and mutant allele frequency in Toy Poodles, Chihuahuas and Miniature Dachshunds in Japan. Journal of Veterinary Medical Science. 78(3): 481-484 . DOI: 10.1292/jvms.15-0279.

Andrade LR, AM Caceres, AS Trecenti et al. (2019) Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs. Animals. 9(10): 844 . DOI: 10.3390/ani9100844.