Progressive Retinal Atrophy
$50 AUD ($X USD / €Y EUR)
Progressive Retinal Atrophy (PRA) is an inherited, late-onset blindness found in Abyssinian, Somali and Ocicat breeds.
It is typically characterised by a progressive degeneration of photoreceptors in the eye. A mutation in a gene called CEP290 has been found to be associated with PRA in the above mentioned breeds.
It is normal for photoreceptors to develop after birth to about 8 weeks of age. However in kittens affected with PRA, the photoreceptors develop, but as the cat ages, the photoreceptors degenerate, leading initially to night blindness and progressing to total blindness at around 3-5 years of age.
PRA is inherited as an autosomal recessive disorder, meaning that two copies of the mutation are needed for the disease to occur. Carriers of only one copy of the mutation are not affected and will have normal vision.
A simple cheek swab will enable breeders to identify both carriers and affected animals and plan breed programs accordingly.
Result
CEP290 Mutation Not Found / Carrier / Affected
NB: Other causes of PRA may exist which are not identified by this test.
Interpretation
Not found = The CEP290 mutation was not found.
Carrier = One copy of the CEP290 mutation was found. Such cats are carriers but
will not be affected and will have normal vision. Precautions should be
taken in breeding programs.
Affected= Two copies of the CEP290 mutation were found and PRA is likely to
develop.
