UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Canine Multifocal Retinopathy 1

Canine Multifocal Retinopathy 1 (CMR1) is an inherited eye disease caused by a mutation (c.73C>T) in the Bestrophin 1 gene that results in a shortened, dysfunctional protein. Affected dogs typically present with multiple, discrete circular areas of retinal detachment between 11 and 16 weeks of age. Fluid accumulates under the detached retina resulting in gray, tan, orange or pink “blisters” in the eye. Progression of retinal changes is slow, ceases by 1 year and does not lead to blindness. In some cases, the blisters appear to heal as the dog ages but vision loss has been reported. The disease is inherited in an autosomal recessive fashion thus two copies of the CMR1 mutation must be present to produce the disease. Breeding two carriers is predicted to produce 25% affected pups

The VGL offers a genetic test for the CMR1 mutation. Genetic screening helps breeders establish the genetic status of breeding stock and select mating pairs appropriately in order to reduce the risk of producing CMR1-affected offspring.

Testing is recommended for: American Bulldog, American Bully, Aussiedoodle, Australian Koolie, Australian Shepherd, Brazilian Terrier, Bulldog, Bullmastiff, Cane Corso, Dogue de Bordeaux, French Bulldog, Great Pyrenees, Koolie, Mastiff, Miniature American Shepherd, Miniature Australian Shepherd, Perro de Presa Canario, Shorty Bull, South African Boerboel, Toy Australian Shepherd

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Allow 5-10 business days for results.

Results reported as:

N/N

Normal - no copies of the CMR1 mutation

N/CMR1

Carrier - 1 copy of the CMR1 mutation; dog is normal

CMR1/CMR1

Affected - 2 copies of the CMR1 mutation; dog will develop multifocal retinopathy

References:

Gornik KR, Pirie CG, Duker JS, Boudrieau RJ. Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel. Vet Ophthalmol. 2013 Sep 3. [PubMed: 23998685]

Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8). [PubMed: 27525650]

 
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