XLPRA1 – X-Linked Progressive Retinal Atrophy 1
XLPRA1 stands for X-Linked Progressive Retinal Atrophy 1 and it is an eye disorder, which belongs in progressive retinal atrophy group of disorders. Progressive retinal atrophy (PRA) uncludes autosomal inherited diseases that lead to degeneration of retinal photoreceptor cells in dogs and other pets. General characteristics of PRA group of disorders are disturbance of dark vision, visual field defects, and abnormalities in the electroretinogram. All of this can progress into blindness. 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 (XLPRA) in few breeds, such as Old English Mastiffs, Bullmastiffs, Siberian Husky and Samoyed.
Due to photorecteptors in the retina, day and night vision is enabled. Photoreceptors responsible for night vision are called rods. 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. The disease is progressive, from initial stage of night blindness to advanced stage of PRA which causes secondary cataracts or full blindness in the dog. Since the appearance of the first symptoms, PRA usually progresses til advanced stage within one year.
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.
Abbreviation XLPRA stands for X-linked progressive retinal atrophy. X-Linked Progressive Retinal Atrophy 1 (XLPRA1) has been identified in Siberian Huskies and Samoyeds. When first identified, it has been referred to as XLPRA, but now is renamed to XLPRA1, to be distinguishable from another disorder, known as XLPRA2. XLPRA1 can be characterized as a ”late-onset” form of PRA. The first symptoms occur not before dog’s three to five years of age
The disorder is caused by a deletion in RPGR gene. XLPRA is inherited as a X-linked recessive disorder, and as such, it differently affects males and females. Heterozygous female with one copy of mutated gene will not develop symptoms of the XLPRA and she is the carrier of the disorder. When mated with a healthy male, all female puppies will be healthy, but there are 50% chances they will be carriers for the disease. Among male puppies, chances are 50% that they will be healthy, and 50% that they will be affected and with time show the XLPRA1 symptoms.
There is no cure for XLPRA1, 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 XLPRA1 genetic testing.
Zhang, Q., Acland, G.M., Wu, W.X., Johnson, J.L., Pearce-Kelling, S., Tulloch, B., Vervoort, R., Wright, A.F., and Aguirre, G.D. (2002). Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum. Mol. Genet. 11, 993–1003.