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Progressive Retinal Atrophy crd2 (PRA crd2)
Breed: Pitbull
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 crd2 (PRA crd2)
OMIA
1675
Gene Name
IQCB1
Mutation
c.952-953insC
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 Pit Bull Terrier
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
CRD2
Gene Name
IQCB1
Mutation
c.952_53insC
Mutation Comment
g.25078909_25078910insC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Cone-Rod Dystrophy 2
Gene Name
IQCB1
Mutation
c.952-953insC
Nature of test
mutation test
FCI Number
-57
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Cone-Rod Dystrophy 2
Gene Name
IQCB1
Mutation
c.952-953insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein O, Mezey JG, Schweitzer PA, Boyko AR, Gao C, Bustamante CD, Jordan JA, Aguirre GD, Acland GM. 2013. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci.
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
-57
GTP Breed
Pitbull
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Cone-Rod Dystrophy 2
Gene Name
IQCB1
Mutation
c.952-953insC
Nature of test
mutation test
FCI Number
-57
GTP Breed
Pitbull
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
IQCB1
Mutation
c.952-953insC
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