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Progressive Retinal Atrophy rcd1 (PRA-rcd1)

Breeds

Relevance Rating: Some evidence for test being meaningful for these breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Progressive Retinal Atrophy rcd1 (PRA-rcd1)
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
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