Canine Multifocal Retinopathy (CMR3)
Multifocal Retinopathy 3, Multifocal Retinopathy
The Canine Multifocal Retinopathy 3 (CMR3) mutation causes raised lesions to form on the retina which alters the appearance of the eye but usually does not affect sight. The lesions may disappear or may result in minor retinal folding. Symptoms usually appear when a puppy is only a few months old, and generally do not worsen over time. The genetic test for CMR3 is valuable for identifying the cause of retinal deformation. Given the exact genetic diagnosis, the owner can be reassured that there probably will be little or no vision loss due to this condition.
Reading Your Results
These dogs have two copies of the normal gene and will neither develop Canine Multifocal Retinopathy nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Canine Multifocal Retinopathy but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are susceptible to developing retinal deformation.
C.1388del; 1 Bp Del C
Zangerl B, Wickström K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Guziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis. 2010 Dec 16; 16:2791-804. [PubMed: 21197113]