UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Progressive Retinal Atrophy (Rod-Cone Dysplasia, rcd1) Irish Setter

Introduction

Progressive Retinal Atrophy (PRA) in the Irish Setter and Irish Red and White Setter is an early onset inherited rod-cone dysplasia (type 1-rcd1) resulting from a mutation in phosphodiesterase 6B (PDE6B) enzyme. Dogs with this disease are typically completely blind before two years of age with signs often evident by 6 weeks. The disease is inherited in an autosomal recessive fashion thus two copies are required for an animal to be affected with both sexes being equally affected. Carrier dogs with one normal and one mutated PDE6B gene are unaffected but breeding two carriers together is expected to produce 25% affected offspring and 50% carriers.

The VGL offers a test for Irish and Irish Red and White Setter rcd1-PRA to assist owners and breeders in identifying affected and carrier dogs. The test uses DNA collected from buccal (cheek) swabs, thus avoiding blood sample collection. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.

ORDER TEST KITS | PRICE LIST
Allow 2-6 business days for results.

Results reported as:

N/N No copies of the rcd1-PRA mutation; dog is normal
N/PRA 1 copy of the rcd1-PRA mutation; dog is a carrier
PRA/PRA Affected 2 copies of the rcd1-PRA mutation; dog is affected.

Reference:

M L Suber, S J Pittler, N Qin, G C Wright, V Holcombe, R H Lee, C M Craft, R N Lolley, W Baehr, and R L Hurwitz. (1993) Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci USA. 90(9): 3968–3972.

Progressive Retinal Atrophy (Rod-Cone Dysplasia, rcd1) Sloughi

Introduction

Progressive Retinal Atrophy (PRA) in the Sloughi is a late onset inherited rod-cone dysplasia (type 1-rcd1) resulting from a mutation in phosphodiesterase 6B (PDE6B) enzyme.  Dogs with this disease typically start showing signs of visual impairment between 2-3 years of age. The disease is inherited in an autosomal recessive fashion thus two copies are required for an animal to be affected with both sexes being equally affected.  Carriers, dogs with one normal and one mutated PDE6B gene are unaffected but breeding two carriers together is expected to produce 25% affected offspring and 50% carriers.

The VGL offers a test for Sloughi rcd1-PRA to assist owners and breeders in identifying affected and carrier dogs. The test uses DNA collected from buccal (cheek) swabs, thus avoiding blood sample collection. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.

ORDER TEST KITS | PRICE LIST
Allow 2-6 business days for results.

Results reported as:

N/N No copies of the rcd1-PRA mutation; dog is normal
N/PRA 1 copy of the rcd1-PRA mutation; dog is a carrier
PRA/PRA Affected 2 copies of the rcd1-PRA mutation; dog is affected.

Reference:

Dekomien G, Runte M, Gödde R, Epplen JT. (2000) Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet. 90(3-4):261-7.

 
Veterinary Genetics Laboratory, Tel 530-752-2211, Email VGL