Progressive retinal atrophy (rcd1a-PRA)

General description

In the Sloughi breed, dysplasia of cones and rods occurs (a so-called rod cone dysplasia type 1 (rcd1)). The rcd mutation is characterised by an early onset of the disease.

Breeds

Sloughi

Order details
Test number8353
Abbreviationrcd1a-PRA
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Causalitycausally
GenePDE6B
MutationINS
LiteratureOMIA:001669-9615
Detailed description

Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated. One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar. Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic. In the Sloughi breed, dysplasia of cones and rods occurs (a so-called rod cone dysplasia type 1 (rcd1)). The rcd mutation is characterised by an early onset of the disease.