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Canine Multifocal Retinopathy CMR1 (Coton de Tulear Type)

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Description:

Canine Multifocal Retinopathy Type 1 is an eye disorder known to affect Coton de Tulears.
 
The mutation causes raised lesions on the retina. The lesions alter the appearance of the eye but usually do not affect sight. The lesions may disappear, or may result in minor retinal folding. Symptoms of the mutation usually appear when a puppy is only a few months old, and generally do not worsen over time but can progress very slowly.
 
The genetic test for CMR is valuable for identifying the cause of a 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.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Bestrophin 1 (BEST1) on chromosome 18

Variant Detected:

Base Substitution c.482G>A p.Gly161Asp

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

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):

Coton De Tulear, Mixed Breed,

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