Canine multifocal retinopathy (CMR2) is an autosomal recessive genetic eye disorder similar to Best macular dystrophy in humans. Causative mutation in the BEST1 gene generates a premature stop codon, which results in a non-functional protein responsible for the proper formation of pigment epithelium in the 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, but you can discover them early with genetic testing.
Inheritance: autosomal recessive - read more
Mutation: VMD2 gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers, and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.