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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.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,