Progressive Retinal Atrophy (PRA-pd) (Persian)

Quick Summary

A recessive, inherited form of progressive retinal atrophy in Persian cats leads to retinal thinning and eventual blindness.

Phenotype: In affected cats, uncoordinated eye movement is often observed, as well as owner-reported increased eye-shine (tapetal reflectivity) that occurs as thinning of the retina progresses. Onset of photoreceptor loss is around 5 weeks of age with severe loss by 16 weeks of age.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, PRA = Progressive retinal atrophy (Persian derived)

Breeds appropriate for testing: Persian, British Longhair, British Shorthair, Himalayan, Exotic Longhair, Exotic Shorthair, Napoleon, and other Persian-derived breeds and crosses

Explanation of Results:

  • Cats with N/N genotype will not have Persian-derived progressive retinal atrophy. They cannot transmit this Persian-derived PRA variant to their offspring.
  • Cats with N/PRA genotype will not have Persian-derived progressive retinal atrophy, but are carriers. They will transmit this Persian-derived PRA variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% kittens affected by Persian-derived progressive retinal atrophy.
  • Cats with PRA/PRA genotype will have Persian-derived progressive retinal atrophy, a condition leading to blindness.
Price

$40 one test per animal
$65 this test + PKD1 test

Additional Details

Persian cats have a demonstrated form of progressive retinal atrophy (PRA-pd). The disease is inherited in an autosomal recessive fashion with both sexes being equally affected. Onset of photoreceptor loss is around 5 weeks of age with severe loss by 16 weeks of age. In affected cats, uncoordinated eye movement is often observed, as well as owner-reported increased eye-shine (tapetal reflectivity) as thinning of the retina progresses. Corneal thinning is not observed. Cats with one normal and one mutated gene (carriers) have Retinal Pigment Epithelium changes but maintain normal vision without photoreceptor loss. Mating between two carrier cats is expected to produce 25% blind kittens.

Research by Dr. B. Gandolfi in the laboratory of Dr. Leslie Lyons, University of Missouri, identified the mutation associated with PRA-pd. Testing for this PRA-pd variant assists owners and breeders in identifying affected and carrier cats.

Turnaround Time
2-6 business days
Type of Sample

Species

Cat

Type of Test

Results Reported As
Test Result Progressive Retinal Atrophy-Persian Derived (PRA-pd)
N/N

Normal. No copies of the PRA-pd mutation.

N/ PRA

Carrier. 1 copy of the PRA-pd mutation. Vision appears normal.

PRA/ PRA

Affected. 2 copies of the PRA-pd mutation. Cat will go blind

References

Rah, H., Maggs, D.J., Blankenship, T.N., Narfstom, K., & Lyons, L.A. (2005). Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. Investigative Ophthalmology & Visual Science, 46(5), 1742-1747. doi: 10.1167/iovs.04-1019

Alhaddad, H., Gandolfi, B., Grahn, R.A., Rah, H., 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, 25(7-8), 354-362. doi: 10.1007/s00335-014-9517-z