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Canine Multifocal Retinopathy (CMR3 Dog)

Canine multifocal retinopathy (CMR3) is a disease of the retina in which lesions and defects occur at various sites of the retina. Affected animals show very mild visual impairment; severe cases are rare.

The disease occurs in the Finnish Lapphund and the Lapponian Herder. The inheritance is autosomal recessive.

Symptoms

  • Several brownish-pink subretinal spots
  • Areas of focal retinal degeneration
  • Causes visual impairment only in severe cases
  • Mostly normal vision with minor limitations

General Information

  • Canine multifocal retinopathy 3 (CMR3) is caused by lesions and defects at various sites of the retina.
  • The condition is usually diagnosed at an age of 10-14 weeks and is not progressive.

Breeds affected

Lapphund, a dog breed affected by canine multifocal retinopathy CMR3

Finnish Lapphund and Lapponian Herder

Test Information

This mutation test detects a deletion (c.1388delC) in exon 10 of the BEST1 gene (also known as VMD2).

Genotype and Lab Report

Inheritance: autosomal recessive

→ The disease only occurs if both alleles of the gene are affected by the mutation (cmr3/cmr3). Dogs that have only one allele with the causative mutation (N/cmr3) are clinically healthy carriers.

Genotypes:

N/N = genetically normal

The dog has no predisposition for CMR3 and therefore cannot pass it on to its offspring.

N/cmr3 = a carrier

The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.

cmr3/cmr3 = affected

The variation is passed on 100% to the offspring.

Recommendations

  • Carrier animals can be bred to normal animals (N/cmr3 x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
  • Mating two carrier animals (N/cmr3 x N/cmr3) should be avoided because there is a 25% chance that the offspring will be affected.
  • Affected animals (cmr3/cmr3) should be excluded from breeding.

Literature

Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, 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 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.

Zangerl, B., Wickström, K., Slavik, J., Lindauer, S.J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K.E., Aguirre, G.D.: Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).Mol Vis 16:2791-804, 2010. Pubmed reference: 21197113.

Further information is available at: Online Mendelian Inheritance in Animals.