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Canine Multifocal Retinopathy 1 (cmr1)

General

Disease Name
Canine Multifocal Retinopathy 1 (cmr1)
OMIA
1444
Gene Name
BEST1
Mutation
c.73C>T
OMIM
608161
Disease Code
CMR1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Details
Small light-coloured lesions (retina) is separating/folding (10-14 weeks of age), rarely causes vision problems
Published
Guziewicz, KE., Zangerl, B., Lindauer, SJ., Mullins, RF., Sandmeyer, LS., Grahn, BH., Stone, EM., Acland, GM., Aguirre, GD. : Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed reference: 17460247. DOI: 10.1167/iovs.06-1374.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
bestrophin 1
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