Canine Multifocal Retinopathy 3 (cmr3)
Breed: Pyrenean Mountain Dog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Canine Multifocal Retinopathy 3 (cmr3)
OMIA
1554
Gene Name
BEST1
Mutation
c.1388del
Mutation 2
c.73C>T
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
Zangerl, B., Wickström, K., Slavik, J., Lindauer, S.J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K.E., Aguirre, G.D. : Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-804, 2010. Pubmed reference: 21197113.
Published 2
Guziewicz, K.E., Zangerl, B., Komáromy, A.M., Iwabe, S., Chiodo, V.A., Boye, S.L., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. : Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects. PLoS One 8:e75666, 2013. Pubmed reference: 24143172. DOI: 10.1371/journal.pone.0075666.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Lapponian Herder
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del