Disease
Progressive retinal atrophy (PRA) is characterized by the bilateral degeneration of the retina, causing progressive vision loss culminating in blindness. Today four mutations are known causing PRA in cats.
rdAc-PRA
The late onset photoreceptor degeneration rdAc-PRA is caused by a mutation in the CEP290-gene. Affected cats have normal vision at birth with degeneration first detected by electroretinographic (ERG) exam at about seven months of age. Vision loss progresses slowly and is variable, with most cats becoming blind by usually 3-5 years of age.
Breeds: Abessinian, American Curl, American Wirehair, Bengal, Colourpoint, Cornish Rex, Munchkin, Ocicat, Peterbald, Siamese und related breeds (e.g. Balinese, Javanese, Oriental Shorthair, Seychellois), Singapura, Somali, Tonkinese
Trait of inheritance: autosomal-recessive
Test duration: 3-4 days after arrival of the sample in the lab
rdy-PRA
A different form of blindness called “rod cone dysplasia”, or “Rdy” has also been identified in Abyssinian and Somali cats. The mutation is a single base pair deletion in a different gene, CRX, which also results in a defective protein that is critical for eye development. Cats carrying one copy of this mutation have retarded development and degeneration of photoreceptor cells, which leads to early-onset blindness by 7 weeks of age.
Breeds: Abessinian, Somali
Trait of inheritance: autosomal-dominant
Test duration: 1-2 weeks after arrival of the sample in the lab
PRA-pd
Persian cats have a demonstrated form of progressive retinal atrophy (PRA-pd). 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.
Breeds: Persian, Himalayans, Exotic Shorthair and related breeds
Trait of inheritance: autosomal-recessive
Test duration: 1-2 weeks after arrival of the sample in the lab
PRA-b*
Bengal progressive retinal atrophy causes the destruction of the photoreceptors in the retina. Loss of cells begins around 7 weeks of age and slowly progresses until the cat has very compromised vision by approximately 2 years of age. However, blindness develops at different rates in different cats. The pupils are usually more dilated for affected cats than for cats with normal vision in the same lighting conditions. Affected cats also tend to carry their whiskers in a more forward position.
Breed: Bengal
Trait of inheritance: autosomal-recessive
Test duration: 3-4 weeks after arrival of the sample in the lab
Material
The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.
Testing Procedure
Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer. Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.
Questions???
Please contact our molecular biology team for further questions.
LABOKLIN GmbH und Co.KG, Steubenstraße 4, D-97688 Bad Kissingen, Tel. (+49)971 /72020 or Fax: (+49)9 71 / 7202995 or Email labogen@laboklin.de
