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Search Term: Progressive Retinal Atrophy rcd3 (PRA-rcd3)
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
Disease Name
Progressive Retinal Atrophy rcd3 (PRA-rcd3)
Disease Name 2
Rod-Cone Dysplasia 3 (rcd3)
OMIA
1314
Gene Name
PDE6A
Mutation
c.1940delA
OMIM
613810
Disease Code
RCD3
Test Type
Genetic Disease/Disorder
Details
PRA-rcd3 (Progressive Retinal Atrophy rod-cone degeneration 3) is an early-onset PRA mutation which causes progressive vision loss, and eventually blindness. Puppies may show signs of night-blindness by 6 weeks of age. By the age of 1-2 years most affected dogs are completely blind.
Details 2
PRA-rcd3 (Progressive Retinal Atrophy rod-cone degeneration 3) is an early-onset PRA mutation that causes bilateral degeneration of the retina which causes progressive vision loss, and eventually blindness. Puppies may show signs of night-blindness by 6 weeks of age. By the age of 1-2 years most affected dogs are completely blind.
Published
Petersen-Jones, S.M., Entz, D.D., Sargan, D.R. : CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology & Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029.
Published 2
Petersen-Jones, S.M., Zhu, F.X. : Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis American Journal of Veterinary Research 61:844-846, 2000. Pubmed reference: 10895911.
Published 3
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Gene Name Text
phosphodiesterase 6A, cGMP-specific, rod, alpha
Researched Breeds
Cardigan Welsh Corgi
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-participant Out Sourced Testing Any Patents Held
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Other Recognized Accreditation Out Sourced Testing Participant
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participant
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participant Any Patents Held
St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-participant Other Recognized Accreditation Subsidiary Company
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
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