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Progressive Retinal Atrophy, Type A

General

Disease Name
Progressive Retinal Atrophy, Type A
Disease Name 2
Photoreceptor Dysplasia, PRA
OMIA
1311
Gene Name
unpublished
Mutation
c.244C>G
Disease Code
PRA A
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.
Published 2
Zhang, Q., Baldwin, V.J., Acland, G.M., Parshall, C.J., Haskel, J., Aguirre, G.D., Ray, K. : Photoreceptor dysplasia (pd) in miniature schnauzer dogs: Evaluation of candidate genes by molecular genetic analysis Journal of Heredity 90:57-61, 1999. Pubmed reference: 9987905.
Body/System/Process
Eye
Inheritance
ARIP
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