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Progressive Retinal Atrophy (PRA-prcd)
Breed: Hungarian Shorthaired Pointer/ Rövidszörü Magyar Viszla
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 (PRA-prcd)
OMIA
1298
Gene Name
PRCD
Mutation
c.5G>A
Mutation 2
G1298A
Mutation 3
c.2685delA
Mutation 4
c.2687_2688insTAGCTA
Mutation Notes
Test has been reported as being offered as a linkage/marker test, from some GTPs
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
Breed Specific Info
Researched Breeds
American cocker spaniel, Australian Cattle Dog, Australian Shepherd, Australian stumpy tail cattle dog, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden Retriever, Karelian bear dog, Kuvasz, Labrador Retriever, Lapponian Herder , Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck Tolling retriever, Portuguese water dog, Spanish water dog, Swedish Lapphund, Toy Poodle, Yorkshire Terrier
HSP Test-Specific Data
Agrotis S.r.l.
Anicom Specialty Medical Institute Inc.
BioBank AS
Certagen GmbH
CMSCH
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
GTP Disease Synonym
Progressive rod-code degeneration
Gene Name
PRCD
Mutation
G1298A
Nature of test
mutation test
FCI Number
57
GTP Breed
Hungarian shorthaired pointer/ Rövidsz?r? Magyar Viszla
