Breeds Affected: Many breeds, including but not limited to: Abyssinian, Somali, Siamese, Colorpoint Shorthair, Oriental Shorthair, Balinese, Javanese
Samples Accepted: Blood, Buccal Swabs
Disease Information: Hereditary retinal degeneration (rdAc) is an autosomal recessive disease. Affected cats have normal sight at birth but early ophthalmological changes of retinal atrophy are observable by 1.5-2 years of age. Vision loss is complete between 3-5 years of age.
Inheritance Information: RdAc is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The cat is normal, and cannot produce affected offspring.
N/rdac The cat is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/rdac carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
rdac/rdac The cat is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/rdac carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/rdac x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/rdac x N/rdac ) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (rdac /rdac ) should not be used for breeding.
Test Information: This mutation test identifies a single base change in intron 50 of the CEP290 gene.
Menotti-Raymond, M., David, V.A., Pflueger, S., Roelke, M.E., Kehler, J., O’Brien, S.J., Narfström, K.: Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds. Vet J 186:32-8, 2010. Pubmed reference: 19747862. Doi: 10.1016/j.tvjl.2009.08.010.
Menotti-Raymond, M., David, V.A., Schäffer, A.A., Stephens, R., Wells, D., Kumar-Singh, R., O’Brien, S.J., Narfström, K.: Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered 98:211-20, 2007. Pubmed reference: 17507457. Doi: 10.1093/jhered/esm019.
Further information is available at the Online Mendelian Inheritance in Animals website.