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Canine Multifocal Retinopathy CMR3 (Lapphund Type) Overview

Canine Multifocal Retinopathy CMR3 (Lapphund 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 and Nucleotide deletion c.1388delC c.1466G>T p.Gly489STOP

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Multifocal retinopathy 3 is an inherited disorder of the Retina affecting dogs. Affected dogs typically present between 9 months and 2 years 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. Some affected dogs also present with obvious retinal folding. Progression of retinal changes is usually slow. 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 3.

Research Citation(s): Zangerl B, et al. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). (2010), Mol Vis, 16:2791-2804.

Associated Breed(s): Lapponian Herder,  Finnish Lapphund,  Swedish Lapphund,  Mixed Breed,