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Progressive Retinal Atrophy rcd1 (PRA-rcd1)
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 in this breed
GTPs
General
Disease Name
Progressive Retinal Atrophy rcd1 (PRA-rcd1)
OMIA
882
Gene Name
PDE6B
Mutation
c.2420G>A
Test Type
Genetic Disease/Disorder
Details
PRA rcd1 is a disease of the retina. The retina starts to degenerate from 3 weeks of age. Affected pups begin showing signs of night-blindness by 6 weeks of age, and by 1-2 years of age most affected dogs are completely blind.
Details 2
PRA rcd1 is a disease of the retina. The retina starts to degenerate from 3 weeks of age. Affected pups begin showing signs of night-blindness by 6 weeks of age, and by 1-2 years of age most affected dogs are completely blind.
Published
Suber, M.L., Pittler, S.J., Qin, N., Wright, G.C., Holcombe, V., Lee, R.H., Craft, C.M., Lolley, R.N., Baehr, W., Hurwitz, R.L.: Irish Setter Dogs Affected with Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase beta- Subunit Gene Proceedings of the National Academy of Sciences of the United States of America 90:3968-3972, 1993. Pubmed reference: 8387203
Published 2
Clements, P.J.M., Gregory, C.Y., Petersen-Jones, S.M., Sargan, D.R., Bhattacharya, S.S.: Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test Current Eye Research 12:861-866, 1993. Pubmed reference: 8261797
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Irish Setter
