Description: Multifocal Retinopathy (CMR) is a hereditary disease affecting multiple breeds of dogs. The clinical symptoms of CMR are similar to those of Best macular dystrophy – BMD in humans. Both diseases are retinal diseases caused by a mutation in the VMD2 gene – Vitelliform Macular Dystrophy 2 Gene. This gene encodes bestrophin, both in humans and dogs, which is responsible for the correct assembly of the retinal pigment epithelium. Mutations in this gene cause atrophy of the pigment epithelium and lead to severe central vision damage. The disease caused by the C73T mutation in the VMDR2 gene is referred to as CMR1. This mutation results in the generation of a premature stop codon at position 25 (R25X)
Inheritance: autosomal recessive
Mutation: c.73C>T in VMD2 gene (Vitelliform Macular Dystrophy 2 Gene), now BEST1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: American Bulldog, American Bully, Australian Koolie, Australian shepherds, Boerboel, Brazilian Terrier, Bullmastiffs, Cane Corso, Continental bulldog, Dogo Canario, Dogue de Bordeaux, English Bulldog, English Mastiffs, Finnish Lapphund (Suomenlapinkoira), French Bulldog, Havanese (Bichon Havanese), Italian Corso Dog, Lapponian Herder (Lapinporokoira), Mastiff, Miniature American Shepherd, Miniature Australian Shepherd, Pero de Presa Canario, Pyrenean Mountain Dog, Swedish Lapphund