Abstract
African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes. Whole genome sequencing, conducted on two unaffected parents and one affected offspring was compared to a variant database from 51 domestic cats and a Pallas cat, revealed 50 candidate variants that segregated concordantly with the PRA phenotype. Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. The variant segregated concordantly in other related individuals within the pedigree supporting the identification of a recessively inherited early-onset feline PRA. Analysis of the black-footed cat studbook suggests additional captive cats are at risk. Genetic testing for IQCB1 and avoidance of matings between carriers should be added to the species survival plan for captive management.
Highlights
Genetic tests for diseases recognized and observed in zoo populations may prove to be critical for the long-term survival of species that are threatened with extinction and are managed in captive breeding programs
Phylogenetic studies indicate that the black-footed cat is part of the domestic cat lineage along with several other wild felids, including the European wildcat (Felis silvestris silvestris), African wildcat (Felis silvestris lybica), Chinese desert cat (Felis bieti), Sand cat (Felis margarita), and Jungle cat (Felis chaus) (Fig. 1b)[16,17,18]
Four different types of Progressive retinal atrophy (PRA) have been described in the domestic cat (Felis catus)[25,26,27,28]
Summary
Genetic tests for diseases recognized and observed in zoo populations may prove to be critical for the long-term survival of species that are threatened with extinction and are managed in captive breeding programs. Information concerning other disease processes or conditions that occur in wild or captive black-footed cats is limited. Due to their endangered status and their relatively small captive breeding population, the presence of genetic defects, such as heritable blindness, could be detrimental for the long-term sustainability of captive black-footed cat populations. In Bengal cats, an autosomal recessive PRA has been characterized[25] Due to their similarity to human globe size, relatively accelerated lifespan and different represented modes of inheritance for PRA, domestic cats represent a useful animal model for retinal diseases in humans such as retinitis pigmentosa and Leber’s congenital amaurosis[41]. The present study describes an early-onset generalized PRA diagnosed in two full-sibling African black-footed cats (Felis nigripes). A DNA-based test for management of the disease within the captive breeding program can be implemented
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