Canine Progressive Retinal Atrophy

General Information: Canine Progressive Retinal Atrophy (PRA) due to a mutation in the BBS4 gene is an inherited eye disorder in dogs. This condition is characterized by the degeneration of retinal photoreceptor cells, leading to progressive vision loss and eventual blindness. PRA caused by the BBS4 mutation is inherited in an Autosomal Recessive manner, meaning that two copies of the mutated gene—one from each parent—are required for a dog to be affected. Symptoms typically begin with night blindness, followed by a gradual loss of daytime vision. While there is no cure, affected dogs can still enjoy a good quality of life with supportive care and proper management of their environment to ensure safety.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog is a Carrier (Not Affected)

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the BBS4 gene variant can determine a dog's risk of developing Progressive Retinal Atrophy or its carrier status. PRA due to BBS4 is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to be affected. Dogs with only one copy of the mutation are carriers and will not show symptoms but can pass the mutation to their offspring. Genetic testing is crucial for informed breeding decisions. Breeding two carrier dogs has a 25% chance of producing affected puppies, a 50% chance of producing carriers, and a 25% chance of producing puppies free of the mutation.