PRA-rdAcProgressive Retinal Atrophy

44,90

Tests turnaround : 3-6 days or Express 3 days
Breeds : Many breeds, see product description
Samples : Buccal swab, or Blood in EDTA tube, or Blood in dry tube

Clear
SKU: pra-rdac-progressive-retinal-atrophy Category:
N/N : Normal, no copy of the PRA-rdac mutation. N/PRA-rdac : Normal, one copy of the PRA-rdac mutation. PRA-rdac/PRA-rdac : 2 copies of the PRA-rdac mutation, the cat may develop this disease.

What is PRA-rdAc ?

APR-rdac (progressive retinal atrophy) is an inherited genetic eye disease that develops in cats between 3-5 years of age. This disease has been observed in many breeds of cat: Siamese (45%), Abyssinian (34%), Somali, Cornish Rex, Oriental (55%), Bengal, Balinese, Tonkinese, Peterbald, Singapura, Munchkin, Ocicat, American wirehair, American curl.
APR-rdac causes degeneration of the retina of the eye.
At the age of 1.5 to 2 years, the retina of the cat’s eye with APR-rdac is still normal.
From 3 to 5 years, we observe an alteration of the rods.
The degeneration of the cones of the eye (atrophy of the retina) causing blindness of the cat and usually appears between the age of 4 to 8 years.

PRA rdac

4 stages of PRA-rdac evolution have been described according to Padnick-Silver et al. Invest Ophthalmol Vis. Sci. 47.8 (2006): 3683-689

PRA-rdAc genetic test

The DNA test for the detection of APR-rdac can be performed from the age of 2 months. Like all genetic tests, this test is very reliable.
The test is carried out using a buccal swab, which is quick and easy to perform.

Here is the list of the different types of samples that are accepted for this test :
  • Buccal swab
  • Blood in EDTA tube
  • Blood in dry tube

Screening and interpretation of results

PRA-rdac in cats is due to a mutation in the CEP290 gene. The modification of a base pair in the intron 50 (IVS50 + 9T ˃ G) of this gene leads to the modification of the transcription of the mRNA.
This mutation is hereditary according to an autosomal recessive mode with complete penetrance.
The test does not allow to determine the severity of the PRA-rdac, nor the age of appearance of the symptoms.

Available breeds for the test : PRA-rdAc - Progressive Retinal Atrophy


The following breeds are recognized :
  • Abyssin
  • American Curl
  • American Wirehair
  • Balinais
  • Bengal
  • Cornish Rex
  • Munchkin
  • Ocicat
  • Oriental
  • Peterbald
  • Siamois
  • Singapura
  • Somali
  • Thai
  • Tonkinois

Understanding results of the test : PRA-rdAc - Progressive Retinal Atrophy


N/N : Normal, no copy of the PRA-rdac mutation. N/PRA-rdac : Normal, one copy of the PRA-rdac mutation. PRA-rdac/PRA-rdac : 2 copies of the PRA-rdac mutation, the cat may develop this disease.
Test name : PRA-rdAc - Progressive Retinal Atrophy
Gene Mutation : CEP290 IVS50 + 9T>G
Heredity : autosomal recessive (more information)
Penetrance : complete (more information)
Test resultPRA-rdAc - Progressive Retinal Atrophy status (CEP290 IVS50 + 9T>G)Health status
N/NNo copy of the PRA-rdAc mutationAnimal is normal (clear)
N/PRA-rdAc1 copy of the PRA-rdAc mutationAnimal is normal (clear)
PRA-rdAc/PRA-rdAc2 copies of the PRA-rdAc mutationAnimal is, will or could be affected

Cross table of the test : PRA-rdAc - Progressive Retinal Atrophy


Mother N/NMother N/PRA-rdAcMother PRA-rdAc/PRA-rdAc
Father N/N100% N/N50% N/N
50% N/PRA-rdAc
100% N/PRA-rdAc
Father N/PRA-rdAc50% N/N
50% N/PRA-rdAc
25% N/N
50% N/PRA-rdAc
25% PRA-rdAc/PRA-rdAc
50% N/PRA-rdAc
50% PRA-rdAc/PRA-rdAc
Father PRA-rdAc/PRA-rdAc100% N/PRA-rdAc50% N/PRA-rdAc
50% PRA-rdAc/PRA-rdAc
100% PRA-rdAc/PRA-rdAc

Certificate example for the test : PRA-rdAc - Progressive Retinal Atrophy

Click on the example certificate below to open it.

certificate

Reference

Menotti-Raymond M, VA Davis, AA Schaffer et al. Mutation inCEP290 discovered for cat model of human retinal degeneration. Journal of Heredity 98(3):211-220 (2007).

Narfström K., David V., Jarret O., Beatty J., Barrs V., Wilkie D., O’Brien S. and Menotti-Raymond M. Retinal degeneration in the Abyssinian and Somali cat (rdAc):correlation between genotype and phenotype and rdAc allele frequency in two continents. Veterinary Ophthalmology (2009) 12, 5, 285-291

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