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Progressive Retinal Atrophy (PRA-prcd)

Breeds

General

Disease Name
Progressive Retinal Atrophy (PRA-prcd)
Disease Name 2
PRA-prcd
OMIA
1298
Gene Name
PRCD
Mutation
c.5G>A
Mutation 2
G1298A
Mutation 3
c.2685delA
Mutation 4
c.2687_2688insTAGCTA
OMIM
610599
Disease Code
PRA
Test Type
Genetic Disease/Disorder
Details
PRA-prcd is progressive, and late-onset, where retina cells are lost slowly. This initially causes problems seeing in dim light, usually around ages 3-5, though diagnosis by an ophthalmologist can be earlier, around 1-2 years. It can progress to complete blindness is some dogs, but not all cases. This disease is seen in many breeds and crosses.
Details 2
Canine progressive rod-cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. An allelic disorders present in multiple breeds, and crosses of those breeds. Research strongly suggests that a common ancestor transmitted the prcd disease allele to many of the modern dog breeds. Diagnosis of prcd is based on a combination of clinical examination, including indirect ophthalmoscopy and electroretinography, and retinal morphology. Retinal photoreceptor abnormalities are visible in animals 14 weeks of age and older using high-resolution optical microscopy.
Patents/ Licences
Patent: OptiGen - US, CA, UK. (please note that patent and licensing laws and coverage vary by country)
Published
Zangerl, B., Goldstein, O., Philp, AR., Lindauer, SJ., Pearce-Kelling, SE., Mullins, RF., Graphodatsky, AS., Ripoll, D., Felix, JS., Stone, EM., Acland, GM., Aguirre, GD. : Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics :, 2006. Pubmed reference: 16938425. DOI: 10.1016/j.ygeno.2006.07.007.
Published 2
Aguirre, G., Alligood, J., O'Brien, P., Buyukmihci, N. : Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci 23:610-30, 1982. Pubmed reference: 6215376.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
progressive rod-cone degeneration
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