|Other Names:||X-Linked Progressive Retinal Atrophy 1, PRA, XLPRA1|
|Mutation:||chrX:33056371-33105037: 5 bp deletion (del GAGAA)|
|Breed(s):||Pomsky, Samoyed, Siberian Husky|
Progressive retinal Atrophy, X-linked 1 (XLPRA1) is an inherited eye disease affecting dogs. XLPRA1 occurs as a result of degeneration of both Rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an Electroretinogram by a year of age, but visual deficits may not be evident until dogs are at least 2 years of age. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the Tapetum that can be observed on a veterinary eye exam. Due to its X-Linked Inheritance, male dogs are more frequently affected with this disease than female dogs. Other inherited disorders of the eye can appear similar to XLPRA. Genetic testing may help clarify if a dog is affected with XLPRA or another inherited condition of the eye.
Genetic testing of the RPGR gene will reliably determine whether a dog is a genetic Carrier of progressive retinal Atrophy, X-linked 1 (XLPRA1). XLPRA1 is inherited in an X-linked manner in dogs meaning that female dogs must receive two copies of the mutated gene (one from each parent) to develop the disease while male dogs only require one copy of the mutated gene from the mother in order to develop the disease. Therefore, male dogs more commonly present with symptoms of the disease. Each male pup that is born to a female dog known to be a carrier of RPGR has a 50% chance of inheriting the disease. Reliable genetic testing is important for determining breeding practices. In order to eliminate this Mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Female dogs that are not carriers of the mutation have no increased risk of having affected pups. However, because there are multiple types of PRA caused by mutations in other genes, a normal result in RPGR does not exclude PRA in a pedigree.
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.
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