Canine multifocal retinopathy (CMR2) is an autosomal recessive genetic eye disorder similar to Best macular dystrophy in humans. Causative mutation in BEST1 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: BEST1 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.