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Progressive Retinal Atrophy (pd-PRA)
| Acronym: | pdPRA |
| Gene: | AIPL1 |
| Mutation: | c.577C>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Progressive Retinal Atrophy (PRA) is a heterogeneous group of genetic eye diseases affecting the retina, a light-sensitive layer of cells at the back of the eye. Retinal atrophies are common disorders in humans and other animals including cats. Three distinct inherited forms of PRA have been documented in domestic cats so far with different onsets and different modes of inheritance. The type of PRA specific to Persian and other similar cat breeds and their cross-breeds is caused by a specific mutation in the AIPL1 gene whose dysfunction results in photoreceptor disability. Affected cats often show signs such as uncoordinated eye movement and increased eye shine as thinning of the retina progresses. The disease is characterized by early onset, as early as just a few weeks of age, and rapid progression to blindness within the first year of the life of a cat.
This type of progressive retinal atrophy found in Persian cats and their crossbreeds is inherited as an autosomal recessive trait meaning both mutated AIPL3 genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Since there is no cure for PRA, the only way to prevent it is early detection by genetic testing that can help breeders in selecting future mating pairs.
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:
Alhaddad, H., Gandolfi, B., Grahn, R. A., Rah, H. C., Peterson, C. B., Maggs, D. J., Good, K. L., Pedersen, N. C., Lyons, L. A. (2014). Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats. Mammalian genome : official journal of the International Mammalian Genome Society, 25(7-8), 354–362. https://doi.org/10.1007/s00335-014-9517-z
Rah, H., Maggs, D. J., Blankenship, T. N., Narfstrom, K., Lyons, L. A. (2005). Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. Investigative ophthalmology & visual science, 46(5), 1742–1747. https://doi.org/10.1167/iovs.04-1019
Rah, H., Maggs, D. J., Lyons, L. A. (2006). Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats. Journal of feline medicine and surgery, 8(5), 357–360. https://doi.org/10.1016/j.jfms.2006.04.002