Deutsch
Hrvatski
Русский
Português
Canine Multifocal Retinopathy 1 (CMR1)
| Acronym: | CMR1 |
| Gene: | BEST1 |
| Mutation: | c.73 C>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Canine multifocal retinopathy 1 belongs to a group of genetic 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 having the disease. It affects Australian Shepherd, Bulldog, Bullmastiff, Dogo Canario, Dogue de Bordeaux, Italian Corso dog, and Pyrenean Mountain Dog. Salient fundus changes are usually present in animals affected with CMR1 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 self-limited in most cases, although vision loss has also been described. So far, a specific treatment is not known.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
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.
Hoffmann, I., Guziewicz, K.E., Zangerl, B., Aguirre, G.D., and Mardin, C.Y. (2012). Canine multifocal retinopathy in the Australian Shepherd: a case report. Vet Ophthalmol 15 Suppl 2, 134–138.
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.