Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats.

Published on Aug 1, 2015in Investigative Ophthalmology & Visual Science3.47
· DOI :10.1167/IOVS.15-16585
Ron Ofri22
Estimated H-index: 22
(HUJI: Hebrew University of Jerusalem),
Christopher M. Reilly14
Estimated H-index: 14
(UC Davis: University of California, Davis)
+ 6 AuthorsLeslie A. Lyons43
Estimated H-index: 43
(UC Davis: University of California, Davis)
The domestic cat (Felis silvestris catus) is a popular companion animal1,2 as well as an important model for human disease.3–5 Due to their more recent domestication,6–8 cats have relatively fewer breeds than dogs,9,10 and, accordingly, fewer inherited diseases have been identified in the domestic cat.4,11 However, several ophthalmic diseases in domestic cats have a genetic basis.12 Three distinct inherited forms of progressive retinal atrophy (PRA) are well documented in domestic cats: an early-onset, dominantly-inherited rod–cone dysplasia (rdy)13 and a late-onset recessively-inherited rod–cone degeneration (rdAc),14 both in Abyssinian cats; and an early-onset, recessively-inherited rod–cone dysplasia in Persian cats.15 The different modes of inheritance and clinical presentations seen among these retinopathies make affected cats excellent models for various human retinal diseases, including forms of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA).12,16 The life span of the domestic cat and the size of its globe make this species an effective model for evaluation of gene therapies, as well as functional retinal prostheses.12,17 Therefore, detailed clinical, morphologic, and genetic descriptions of feline forms of PRA will support their use as naturally-occurring, large animal models for inherited retinal disease in humans. The Bengal cat breed was founded in the late 1960's by hybridization of domestic cats and a wild felid species, the Asian leopard (Prionailurus bengalensis).10,18 Predominantly two domestic cat breeds, Abyssinians and the Egyptian Mau, were used to found the Bengal breed and their genetic contribution is still evident.19 This study describes a fourth heritable retinal degeneration in domestic cats, specifically in the Bengal breed. Clinical, behavioral, electrophysiological, morphologic, and genetic evaluations of this PRA in Bengal cats suggest this disease could serve as a feline model for human autosomal recessive RP. The early-onset but gradual progression suggest this form of PRA may be a valuable cat model for evaluating gene therapies, pharmaceutical interventions, and visual prostheses.
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