The crd-PRA (Cone-rod dystrophy) is an autosomal recessive inherited photoreceptor disease caused by the predominant loss of cone function. A mutation in the nephronophthisis 4 (NPHP4) gene leads to this form.of PRA. The photoreceptor cells of the retina can be divided into rods or cones depending on their function. The rod cells are specialized for the mesopic vision and contrast sensitivity. The con cells are responsible for color vision. In contrast to rod-cone dystrophies, where firstly, rod cells are affected and secondly, degeneration of the cone cells results in complete blindness of the dog, cone-rod dystrophies are characterised by the relatively early loss of cone photoreceptors while the rod function remains relatively preserved. The disease usually ends with day blindness. The earliest ophtalmoscopic signs appear at about six month of age. The complete manifestation of the diseases (complete day blindness) occur at an age of around 1 to 2.
The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). 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.
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.