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Progressive Retinal Atrophy rcd3 (PRA-rcd3)

General

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
Inheritance
AR
Gene Name Text
phosphodiesterase 6A, cGMP-specific, rod, alpha
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