Canine multifocal retinopathy 1
Canine multifocal retinopathy 1 belongs to a group of inherited retinal disorders primarily caused by mutations scattered throughout the entire BEST1, a gene necessary for retinal pigment epithelium (RPE) function. It is inherited in a recessive manner, allowing the dog to be the mutation carrier, without expressed disease. It is affecting Australian Shepherd, Bulldog, Bullmastiff, Dogo Canario, Dogue de Bordeaux, Italian Corso dog, Pyrenean Mountain Dog. Salient fundus changes are usually present in animals affected with CMR before 4 months of age and are characterized by multifocal areas of retinal which in older dogs progress to multifocal areas of outer retinal atrophy. It seems to be selflimited in most cases, although vision loss has also been described. So far, a specific treatment is not known.
Guziewicz, K.E., Slavik, J., Lindauer, S.J.P., Aguirre, G.D., and Zangerl, B. (2011). Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci 52, 4497–4505.
Zangerl, B., Wickström, K., Slavik, J., Lindauer, S.J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K.E., and Aguirre, G.D. (2010). Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16, 2791–2804.