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Progressive Retinal Atrophy crd1 (PRA crd1)

General

Disease Name
Progressive Retinal Atrophy crd1 (PRA crd1)
Disease Name 2
Cone-Rod Dystrophy 1 (crd1)
OMIA
1674
Gene Name
PDE6B
Mutation
c.2404_2406del
OMIM
613801
Disease Code
CRD1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Cone Rod Dystrophy, PRA
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
Inheritance
AR
Gene Name Text
phosphodiesterase 6B, cGMP-specific, rod, beta
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