PRA-PRCD – Progressive Retinal Atrophy

39.00 € inc. Vat

Acronyms: PRA-PRCD, PRCD
Gene: PRCD
Mutation: Point mutation
Mode of inheritance: Autosomal recessive
Sample: Blood, buccal swab
Breeds: American Cocker Spaniel, Australian Cattle Dog, Australian Shepherd, Australian Silky Terrier, Australian Stumpy Tail Cattle Dog, Poodle, Portuguese Water Dog, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entlebuch Cattle Dog, Golden Retriever, Karelian Bear Dog, Kuvasz, Labrador Retriever, Lapponian Herder, Norwegian Elkhound Grey, Norwegian Elkhound Black, Nova Scotia Duck Tolling Retriever, Giant Schnauzer, Schipperke, Finnish Lapphund, Swedish Lapphund, Yorkshire Terrier, Russian Toy

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Product Description

PRA-PRCD –  Progressive retinal atrophy

PRA-PRCD is an eye disorder, which belongs in progressive retinal atrophy group of disorders. Progressive retinal atrophy (PRA) comprises autosomal recessively inherited diseases that lead to degeneration of retinal photoreceptor cells in dogs and other pets. In general, these diseases are characterized by disturbance of dark vision, visual field defects, and abnormalities in the electroretinogram, which can progress to blindness. It appears in both eyes simultaneously. The age of onset and rate of retinal degeneration varies between the different forms of the conditions. Some forms of PRA are common to multiple dog breeds, while others are recognized in just a single breed. PRA appears in most dog breeds, but also in mixed breed dogs. Almost all PRA disorders are recessively inherited, with exceptions of dominant and X-linked PRA inheritance in few breeds, such as Old English Mastiffs, Bullmastiffs, Siberian Husky and Samoyed.

PRA-PRCD symptoms

Rods are important for vision in dim light, or also night vision and PRA with its rode degeneration leads to night blindness. In the researches, it is estimated that PRA causes death of around 95% of the dog’s photoreceptors. For dog owners or breeders, PRA is recognized by ”glow” or ”increased shine” in the eyes. The disease can progress, from initial stage of night blindness to advanced stage of PRA which causes secondary cataracts or full blindness in the dog. The advanced stage of PRA usually occurs within one year, since the appearance of the first symptoms.

After the death of rods, oxygen is still being delivered to the dead roads, which they cannot use. This excessive oxygen is toxic and it causes oxidative damage and consequently, cone death. The death of retinal tissue causes release of toxic products of cells. They are being absorbed by the lens, which causes lens damage and also cataract development.

PRA-PRCD stands for progressive rod-cone degeneration. It has been identified in various breeds, and its development varies among breeds. Early-onset PRA-PRCD occurs during postnatal retinal differentiation period, which is 2 to 6 weeks of age. It is characterized byrapid progression of retinal degeneration. In contrast from early-onset, late-onset PRA-PRCD first symptoms occur after normal development and maturation of retina and can become clinically evident not until later in life. Progression of retinal degeneration is much slower than in early-onset PRA-PRCD.

Genetics

The mutated gene was mapped to the centromeric region of canine chromosome 9 (CFA9). The researchers have discovered that identical mutation causes PRA-PRCD in dogs and Retinis Pigmentosa in humans. PRA-PRCD is inherited in an autosomal recessive pattern. In case of showing the signs of PRA-PRCD, the healthy parents of an affected cub are obligate heterozygotes, and therefore carry one mutant allele. Heterozygotes have no symptoms. At conception, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

There is no cure for PRA-PRCD, and only way to prevent it, is to breed dogs which are not carriers of the mutation. Defected genes for autosomal recessive disease can be passed for many generations without affected individuals occurring until two carriers are bred to one another. The only way to find out if there is a chance of getting an affected puppy is to do PRA-PRCD genetic testing.

References

Dostal, J. (2011.): Progressive rod-cone degeneration (PRCD) in selected dog breeds and variability in its phenotypic expression. Veterinari Medicina, 56, 2011 (5): 243-247.

Miyadera, K. (2012): Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome, 23: 40-61.

Zangerl, B. (2006.): Identical Mutation in a Novel Retinal Gene Causes Progressive Rod-Cone Degeneration (prcd) in Dogs and Retinitis Pigmentosa in Man. Genomics 88 (5): 551-563.