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Category:
Ophthalmologic - Associated with the eyes and associated structures
Gene:
BEST1
Variant Detected:
c.482G>A (CMR2)
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):
Invest Ophthalmol Vis Sci. 2007 May;48(5):1959-67