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PRA-RCD4 – Progressive Retinal Atrophy
| Acronym: | PRA-RCD4 |
| Gene: | C17H2orf71 (C2orf71) |
| Mutation: | c.3149_3150insC |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
PRA-RCD4 is an eye disorder, which belongs to the 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 a few breeds, such as Old English Mastiffs, Bullmastiffs, Siberian Husky, and Samoyed.
Rods are important for vision in dim light, or also night vision. Because of that, PRA with its rode degeneration leads to night blindness. In the research, it is estimated that PRA causes the 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 the initial stage of night blindness to the advanced stage of PRA which causes full blindness in the dog. The advanced stage of PRA usually occurs within one year, after 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 the release of toxic products of cells. They are being absorbed by the lens, which causes lens damage and also cataract development.
PRA-RCD4 is inherited in an autosomal recessive pattern. It is caused by a mutation in the C2orf71 gene. In case of showing the signs of PRA-RCD4, the healthy parents of an affected dog 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, and the only way to prevent it is to breed dogs that 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-RCD4 genetic testing.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Downs, LM, (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):169-77.