Progressive Retinal Atrophy (Sloughi Type)
Affected Genes: PDE6B
Inheritance: Autosomal Recessive
Variant(canFam6):
chr3:94213228: C>CTGTC
Breed: Sloughi
General Information: Progressive Retinal Atrophy, Rod-Cone Dystrophy 1A (PRA-rcd1a) specifically affects the Sloughi breed, beginning as early as 2-3 years of age with noticeable deterioration in night vision due to the early loss of rod photoreceptors. As the disease advances, affected dogs also experience diminished sight in well-lit conditions and a noticeable decline in peripheral vision. Veterinary eye examinations may reveal changes in the tapetum, the reflective area behind the retina, indicative of ongoing retinal damage. The progression of PRA-rcd1a varies among individual dogs, with some experiencing a gradual progression to complete blindness, while others may maintain partial vision throughout their lives.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the PDE6B gene serves as a crucial tool for identifying carriers of the Progressive Retinal Atrophy (PRA-rcd1a) (Sloughi Type) PRA-rcd1a mutation among Sloughi dogs. This form of Progressive Retinal Atrophy is autosomal recessive, requiring a dog to inherit two copies of the defective gene—one from each parent—for the disease to manifest clinically. Carriers, possessing only one copy of the mutation, typically do not show any symptoms but can pass the defective gene to their offspring. When two carriers are bred, each puppy has a 25% chance of inheriting two copies of the mutation and developing the disease, and a 50% chance of being a carrier. To prevent the spread of this condition and avoid the birth of affected pups, it is advised against breeding two carriers of the mutation. Regular genetic testing is essential before breeding to ensure healthy progeny. Although dogs without the mutation are not at risk of producing affected offspring for this specific type of PRA, the presence of multiple forms of PRA caused by different genes means that a negative result for PDE6B does not entirely eliminate the risk of other forms of retinal degeneration.
References:
Crapon de Caprona, MD. [internet] Sloughi Fanciers Association of America; Progressive retinal atrophy in the Sloughi. Available at http://sloughi.tripod.com/SFAA/PRA.html
Dekomien G, Runte M, Gödde R, Epplen JT. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene.Cytogenet Cell Genet. 2000; 90(3-4):261-267.