Multifocal Retinopathy 1

General Information: Multifocal Retinopathy 1 is an inherited disorder affecting the retinas of several dog breeds, with symptoms typically appearing between 11 and 16 weeks of age. Affected dogs develop multiple discrete circular areas of retinal detachment with underlying fluid accumulation, which can be observed as blister-like lesions during a veterinary eye exam. These lesions, which may appear gray, tan, orange, or pink, are usually found in both eyes and can vary in number, size, and location. The progression of retinal changes is generally slow, with new lesions not forming after 6 to 12 months of age, and in some cases, lesions may heal and become undetectable over time. While the vision of most dogs remains unaffected, some may experience vision loss, making early diagnosis and monitoring crucial.

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 of the BEST1 gene can determine whether a dog is a carrier of Multifocal Retinopathy 1, an autosomal recessive disorder. This condition requires a dog to inherit two copies of the mutated gene (one from each parent) to develop the disease. Carrier dogs, having only one copy of the mutation, do not show symptoms but can pass the gene to their offspring. Breeding two carriers together increases the risk of producing affected pups, with each pup having a 25% chance of inheriting the disease and a 50% chance of being a carrier of the BEST1 gene mutation. Reliable genetic testing is crucial for making informed breeding decisions to prevent the birth of affected puppies. Because visual deficits may not be immediately apparent and lesions can regress as dogs age, genetic testing should be conducted before breeding to help eliminate this mutation from breeding lines and avoid the potential of producing affected pups. Dogs that are not carriers do not have an increased risk of having affected offspring.