General
Disease Name
Progressive Retinal Atrophy crd2 (PRA crd2)
Disease Name 2
Cone-Rod Dystrophy 2 (crd2)
OMIA
1675
Gene Name
IQCB1
Mutation
c.952-953insC
OMIM
609237
Disease Code
CRD2
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
OMIA Url
Inheritance
AR
Gene Name Text
IQ motif containing B1
