ArticleVeterinary journal (London, England : 1997)2010
Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds.
Article in Veterinary journal (London, England : 1997), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 38 citations in OpenAlex.
- Genetic Testing: practical dos and don'ts for cats.Journal of feline medicine and surgery · 2024Review
- Transcriptional precision in photoreceptor development and diseases - Lessons from 25 years of CRX research.Frontiers in cellular neuroscience · 2024Review
- Tracking footprints of artificial and natural selection signatures in breeding and non-breeding cats.Scientific reports · 2022Article
- Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.PLoS genetics · 2022Article
- Animal Welfare Considerations and Ethical Dilemmas Inherent in the Euthanasia of Blind Canine Patients.Animals : an open access journal from MDPI · 2022Article
- Statistical analysis in support of maintaining a healthy traditional Siamese cat population.Genetics, selection, evolution : GSE · 2021Article
- Hereditary cataract in the Bengal cat in Poland.BMC veterinary research · 2020Article
- Article
- Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).Scientific reports · 2017Article
- Integrating Genomic Data Sets for Knowledge Discovery: An Informed Approach to Management of Captive Endangered Species.International journal of genomics · 2016Review
- Article
- Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats.Investigative ophthalmology & visual science · 2015Article
- DNA mutations of the cat: the good, the bad and the ugly.Journal of feline medicine and surgery · 2015Review
- Genetic testing in domestic cats.Molecular and cellular probes · 2012Review
- Feline deafness.The Veterinary clinics of North America. Small animal practice · 2012Review
- Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony.Comparative medicine · 2011Article
- Feline genetics: clinical applications and genetic testing.Topics in companion animal medicine · 2010Review
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Authors and funding
7 authors at 6 institutions in 1 country.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.