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Progressive Retinal Atrophy, Type A

Breeds

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

General

Disease Name
Progressive Retinal Atrophy, Type A
Mutation
c.244C>G
Test Type
Genetic Disease/Disorder
Details
Type A PRA is a difficult form of retinal atrophy as it appears to have incomplete penetrance or possible dominance inheritance - i.e. some carrier animals appear partially affected when examined clinically. An abnormal "shine" has been reported, in the dog's eyes. Initial night blindness will progress slowly to day blindness. It is uncertain how or if this mutation has anything to do with the disorder. Using a test for this disorder, an owner may wish to avoid using carrier or affected tested dogs, but should be aware that the definitive mutation has not yet been described and published.
Details 2
Type A PRA is a difficult form of retinal atrophy as it appears to have incomplete penetrance or possible dominance - i.e. some carrier animals appear partially affected when examined clinically. An abnormal "shine" has been reported, in the dog's eyes. Disorientation is also common symptom of PRA, particularly at night. Initial night blindness will progress slowly to day blindness. Some Miniature Schnauzers with this disorder are homozygous for the gene for phosducin. However, since some affected dogs are heterozygous for this mutation, and other affecteds are homozygous for the normal allele, it is uncertain how or if this mutation has anything to do with the disorder. (source: Zhang et al 1998)
Published
Zhang, Q., Acland, G.M., Parshall, C.J., Haskell, J., Ray, K., Aguirre, G.D. : Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia Gene 215:231-239, 1998. Pubmed reference: 9714819.
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