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Progressive Retinal Atrophy crd1 (PRA crd1)
Breed: Poodle/ standard
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 for these breeds
General
Disease Name
Progressive Retinal Atrophy crd1 (PRA crd1)
OMIA
1674
Gene Name
PDE6B
Mutation
c.2404_2406del
Test Type
Genetic Disease/Disorder
Details
Cone-rod dystrophies are blinding disorders characterized by dysfunction and death of rod and cone photoreceptor cells. Visual impairment can be observed at less than one year of age with severe blindness by early adulthood.
Details 2
Visual impairment can be observed at less than one year of age with severe blindness by early adulthood. Hereditary retinal degenerations (HRD) are blinding disorders characterized by dysfunction and death of rod and cone photoreceptor cells. They are genetically and phenotypically heterogeneous. Very young dogs (less than 1-year old) were affected by severe photopic and scotopic visual impairment, which progressed to more severe blindness in early adulthood.
Published
Goldstein, O., Mezey, J.G., Schweitzer, P.A., Boyko, A.R., Gao, C., Bustamante, C.D., Jordan, J.A., Aguirre, G.D., Acland, G.M. : IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci 54:7005-19, 2013. Pubmed reference: 24045995. DOI: 10.1167/iovs.13-12915.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
American Staffordshire Terriers
HSP Test-Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
PDE6B
Mutation
c.2404_2406del
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
PDE6B
Mutation
c.2404_2406del
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Mezey, J.G., Schweitzer, P.A., Boyko, A.R., Gao, C., Bustamante, C.D., Jordan, J.A., Aguirre, G.D., Acland, G.M. : IQCB1 and PDE6B mutations cause similar early onset retinal degenerati
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AR
FCI Number
172
GTP Breed
Standard Poodle
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
PDE6B
Mutation
c.2404_2406del
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Mezey, J.G., Schweitzer, P.A., Boyko, A.R., Gao, C., Bustamante, C.D., Jordan, J.A., Aguirre, G.D., Acland, G.M. : IQCB1 and PDE6B mutations cause similar early onset retinal degenerati
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
172
GTP Breed
Standard Poodle
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Certagen GmbH
GTP
GTP Name
Primary Open Angle Glaucoma (POAG) ADAMTS17
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
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