Progressive Retinal Atrophy (PRA-prcd)
Breed: Australian Shepherd
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
GTPs
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
OMIA Url
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.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
Gene Name
PRCD
Mutation
G1298A
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
GTP Disease Synonym
Progressive rod cone degeneration, PRA
Gene Name
PRCD
Mutation
c.5G>A
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
PRA-prcd
Gene Name
PRCD
Mutation
c.5G>A
Mutation Comment
g.4188663C>T
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
Gene Name
PRCD
Mutation
c.5G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
Gene Name
PRCD
Mutation
G1298A
This test is outsourced to:
Weatherby's
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
GTP Disease Synonym
Progressive rod cone degeneration, PRA
Gene Name
PRCD
Mutation
c.5G>A
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
GTP Disease Synonym
Progressive rod cone degeneration, PRA
Gene Name
PRCD
Mutation
c.5G>A
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, prcd
Gene Name
PRCD
Mutation
c.5G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PRCD
Mutation
c.5G>A; G1298A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA