Canine multifocal retinopathy (CMR1) is an autosomal recessive genetic eye disorder similar to Best macular dystrophy in humans. Causative mutation in VMD2 gene generates a premature stop codon, which results in non-functional protein responsible for proper formation of pigment epithelium in retina. Typical clinical findings include multifocal areas of retinal elevation which progress to multifocal areas of outer retinal atrophy. In affected animals, the disease develops before 4 months of age and might progress slowly. Some affected animals do not show symptoms until later in life.
Inheritance: Autosomal recessive - read more.
Mutation: VMD2 gene
Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more.
Affected breeds: Great Pyrenees, English Mastiff, Bullmastiff, French Mastiff/Dogue de Bordeaux, Australian Shepherd, Cane Corso, Perro de Presa Canario, English Bulldog, American Bulldog
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling are found here.