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.
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.
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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 :
- American Curl
- American Wirehair
- Cornish Rex
了解测试结果 ： PRA-rdAc - Progressive Retinal Atrophy
基因突变 ： CEP290 IVS50 + 9T>G
遗传： 常染色体隐性 (更多信息)
Penetrance : complete (更多信息)
|测试结果||PRA-rdAc - Progressive Retinal Atrophy 状态（CEP290 IVS50 + 9T>G)||健康状况|
|N/N||No copy of the PRA-rdAc mutation||动物正常（透明）|
|N/PRA-rdAc||1 copy of the PRA-rdAc mutation||动物正常（透明）|
|PRA-rdAc/PRA-rdAc||2 copies of the PRA-rdAc mutation||动物是，将或可能受到影响|
测试的交叉表 ： PRA-rdAc - Progressive Retinal Atrophy
|母亲 N/N||母亲 N/PRA-rdAc||母亲 PRA-rdAc/PRA-rdAc|
|父亲 N/N||100% N/N||50% N/N|
|父亲 N/PRA-rdAc||50% N/N|
|父亲 PRA-rdAc/PRA-rdAc||100% N/PRA-rdAc||50% N/PRA-rdAc|
测试的证书示例： PRA-rdAc - Progressive Retinal Atrophy
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