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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
GTPs
General
Disease Name
Progressive Retinal Atrophy rcd3 (PRA-rcd3)
OMIA
1314
Gene Name
PDE6A
Mutation
c.1940delA
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
Breed Specific Info
Researched Breeds
Cardigan Welsh Corgi
