Peer-reviewed veterinary case report
Retinal degeneration gene found in many popular cat breeds
By Menotti-Raymond, M et al.·Published in Veterinary journal (London, England : 1997)·2010·National Cancer Institute-Frederick, United States·View original on PubMed →
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Original publication title: Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds.
- Species:
- cat
Plain-English summary
A study found a genetic mutation linked to retinal degeneration in Abyssinian and Somali cats, which can lead to blindness. This mutation was also present in 16 other cat breeds, especially among Siamese cats in North America and Europe. Cats with this mutation showed similar eye problems as those in the Abyssinian and Somali breeds. The findings highlight the importance of awareness among veterinarians and the availability of genetic testing to help breeders reduce the risk of this serious eye condition in purebred cats.
People also search for: Abyssinian cat eye problems · Siamese cat blindness · cat retinal degeneration genetic testing
Abstract
The recent discovery of a mutational variant in the CEP290 gene (CEP290: IVS50+9T>G), conferring recessive retinal degeneration in Abyssinian and Somali (long-haired Abyssinian) cats (rdAc) prompted a survey among 41 cat breeds (846 individuals) to assess the incidence, frequency and clinical consequence of rdAc. The rdAc allele displayed widespread distribution, observed in 16/43 (37%) breeds, exhibiting a high allele frequency (∼33%) in North American and European Siamese populations. Clinical evaluations demonstrated high concordance between rdAc pathology and the CEP290 (IVS50+9T>G) homozygous genotype (P=1.1E-6), with clinical disease similar to affected Abyssinians/Somalis. This retinal degeneration has not been reported in breeds other than the Abyssinian/Somali and poses a significant health risk particularly in the Siamese breed group. Alertness of the veterinary community and the present availability of commercial diagnostic testing could synergistically enable breeders to reduce the incidence of rdAc blindness in pure-bred cat populations.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19747862/