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Progressive Retinal Atrophy crd4 (PRA crd4) / cord1

General

Disease Name
Progressive Retinal Atrophy crd4 (PRA crd4) / cord1
Disease Name 2
Cone-Rod Dystrophy 4
OMIA
1432
Gene Name
RPGRIP1
Mutation
c.2404_2406del
Mutation 2
ins 44 bp
Mutation 3
g.8228_8229 insA29GGAAGCAACAGGATG
Disease Code
PRA cord1
Test Type
Genetic Disease/Disorder
Details
If eye-tested at or before 10 weeks of age, the appearance may be normal to an opthamologist. Early signs of disease can be detected by an opthamoligist from around 6 months of age. Signs of vision loss in the dog may become noticable by owners from 9 months. The effects of this mutation were initially believed to result in an early onset form of PRA, typically with an age of onset around two years of age, but more recent results show that some dogs with two copies of this mutation are not diagnosed until much later in life, sometimes as late as 10 years of age.
Details 2
The earliest ophthalmoscopic signs, which include changes in the granular appearance of the tapetal fundus followed by generalized tapetal hyperreflectivity and retinal vascular attenuation, are detectable at approximately 6 months of age. The electroretinogram of affected dogs is typically normal in waveform and latency at 10 weeks of age but markedly reduced in amplitude or even virtually extinguished by 9 months. (Mellersh et al., 2006)
Published
Mellersh, CS., Boursnell, ME., Pettitt, L., Ryder, EJ., Holmes, NG., Grafham, D., Forman, OP., Sampson, J., Barnett, KC., Blanton, S., Binns, MM., Vaudin, M. : Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88:293-301, 2006. Pubmed reference: 16806805. DOI: 10.1016/j.ygeno.2006.05.004.
Published 2
Kuznetsova, T., Iwabe, S., Boesze-Battaglia, K., Pearce-Kelling, S., Chang-Min, Y., McDaid, K., Miyadera, K., Komaromy, A., Aguirre, G.D. : Exclusion of RPGRIP1 ins44 from Primary Causal Association with Early-Onset Cone-Rod Dystrophy in Dogs. Invest Ophthalmol Vis Sci 53:5486-501, 2012. Pubmed reference: 22807295. DOI: 10.1167/iovs.12-10178.
Published 3
Forman, O.P., R.J. Hitti, M. Boursnell, K. Miyadera, D. Sargan, and C. Mellersh, Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mamm Genome 2016
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
RPGRIP1
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