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Progressive Retinal Atrophy
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy
OMIA
1876
Gene Name
SAG
Mutation
c.1216T>C
Test Type
Genetic Disease/Disorder
Details
Retina cells are lost slowly, with intial signs of problems seeing in dim light. May progress slowly to complete blindness.
Details 2
This particular form of PRA was first mentioned by Goldstein et al. (2006), whoconcluded clinical signs are very similar to Progressive rod-cone degeneration (prcd) (OMIA 001298-9615) in a wide range of breeds, the Basenji disorder is not allelic to prcd.
Patents/ Licences
Patent: OptiGen - US, CA, Europe. (please note that patent and licensing laws and coverage vary by country)
Published
Goldstein, O., Zangerl, B., Pearce-Kelling, S., Sidjanin, D.J., Kijas, J.W., Felix, J., Acland, G.M., Aguirre, G.D. : Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88:541-50, 2006. Pubmed reference: 16859891. DOI: 10.1016/j.ygeno.2006.05.013
Published 2
Goldstein, O., Jordan, J.A., Aguirre, G.D., Acland, G.M. : A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis 19:1871-84, 2013. Pubmed reference: 24019744.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Basenji
