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Canine Multifocal Retinopathy CMR1 (Coton de Tulear Type)

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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