Breeds Affected: Bull mastiff, English mastiff
Samples Accepted: Blood, Buccal Swabs
Disease Information: ADPRA is an eye disease with young adult onset; difficulties seeing in low light and loss of peripheral vision are usually noted in affected animals 18 months of age. This progression leads to total blindness; dogs homozygous for ADPRA have a faster disease progression.
Inheritance Information: ADPRA is autosomal dominant, meaning that animals with just one copy of this allele will be affected. 50% of their offspring will also be affected.
The possible genotypes are:
n/n The dog is normal, and cannot produce affected offspring.
n/ADPRA The dog is affected, and 50% of the offspring will be affected.
ADPRA/ADPRA The dog is affected with ADPRA, and 100% of the offspring will also be affected. Dogs homozygous for ADPRA are more severely affected.
– Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding.
Test Information: The mutation test identifies a single base change in the gene RHO.
Kijas, J.W., Cideciyan, A.V., Aleman, T.S., Pianta, M.J., Pearce-Kelling, S.E., Miller, B.J., Jacobson, S.G., Aguirre, G.D., Acland, G.M.: Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa Proceedings of the National Academy of Sciences of the United States of America 99:6328-6333, 2002. Pubmed reference: 11972042. DOI: 10.1073/pnas.082714499.
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered 94:27-30, 2003. Pubmed reference: 12692159.
Further information is available at the Online Mendelian Inheritance in Animals website.