Peer-reviewed veterinary case report
Vision loss from early retinal disease in African black-footed cats
By Oh, Annie et al.·Published in Scientific reports·2017·Department of Veterinary Medicine and Surgery, United States·View original on PubMed →
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Original publication title: Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).
- Species:
- cat
Plain-English summary
A male and female African black-footed cat, both siblings, started showing vision problems and dilated pupils as early as 3 months old. They were diagnosed with early-onset progressive retinal atrophy (PRA), a condition that leads to vision loss, confirmed by tests showing retinal degeneration and poor eye response. Genetic testing revealed that a specific gene variant was responsible for their condition, indicating that this vision loss is inherited. This finding suggests that other black-footed cats in captivity may also be at risk, and genetic testing could help prevent further cases by avoiding breeding between carriers of the gene.
People also search for: black-footed cat vision problems · progressive retinal atrophy in cats · genetic testing for cat eye problems
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/28322220/