Biology Faculty Articles

Title

Widespread Retinal Degenerative Disease Mutation (rdAc) Discovered among a Large Number of Popular Cat Breeds

Document Type

Article

Publication Date

10-2010

Publication Title

Veterinary Journal

Keywords

Retinal degeneration, Cat breeds, Mutation, CEP290, Photoreceptors

ISSN

1090-0233

Volume

186

Issue/No.

1

First Page

32

Last Page

38

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 theCEP290 (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.

Comments

©2010 Elsevier Ltd.

Additional Comments

National Cancer Institute contract #: N01-CO-12400

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015

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