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Canine Multifocal Retinopathy CMR1 (Mastiff/Bull Breeds Type) Overview

Canine Multifocal Retinopathy CMR1 (Mastiff/Bull Breeds Type)
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: Bestrophin 1 (BEST1) on chromosome 18

Variant Detected: Base Substitution c.73C>T p.Arg25STOP

Severity: Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

Research Citation(s): Guziewicz KE, et al. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.(2007), Invest Ophthalmol Vis Sci, 48(5);1959-1967.

Associated Breed(s): American Bulldog ,  Australian Bulldog,  British Bulldog,  Bullmastiff,  Cane Corso Italiano,  Dogue de Bordeaux,  French Bulldog,  Great Pyrenees,  Koolie ,  Old English Mastiff ,  Mixed Breed,  Australian Shepherd,  Boerboel,