Jump to content
International Collaboration For Dog Health And Welfare. Join Us.

Canine Multifocal Retinopathy 2 (cmr2)

Breed: Kerry Blue Terrier

Generic Phene Data

General

Disease Name
Canine Multifocal Retinopathy 2 (cmr2)
Disease Name 2
Canine Multifocal Retinopathy 2
OMIA
1553
Gene Name
BEST1
Mutation
c.482G>A
OMIM
608161
Disease Code
CMR2
Test Type
Genetic Disease/Disorder
Details
Canine multifocal retinopathy 2 is an inherited disease in dogs affecting the retina. Changes are usually present in animals affected with CMR before 4 months of age and are characterized by small light-coloured lesions (retina) is separating/folding (10-14 weeks of age). These multifocal areas of retinal are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Vision loss is reported, but it seems some dogs do fairly well into old age, and some do not.
Details 2
Canine multifocal retinopathy 2 is an inherited disease in dogs affecting the retina. The disease belongs to a group of inherited retinal disorders primarily caused by mutations scattered throughout the entire BEST1, a gene necessary for retinal pigment epithelium (RPE) function (CMR1, CMR2, CMR3). Salient fundus changes are usually present in animals affected with CMR before 4 months of age and are characterized by multifocal areas of retinal which in older dogs progress to multifocal areas of outer retinal atrophy. "Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation" (Grahn et al., 1998).
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

Breed Specific Data

Paw Print Genetics

Link to GTP
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.