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Article

A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog.

G3 (Bethesda, Md.) - 17 Apr 2025

Oliver James A C, Stanbury Katherine, Schofield Ellen, McLaughlin Bryan, Mellersh Cathryn S

Abstract excerpt

Retinopathy with vitamin E deficiency is a familial disease in the English Cocker Spaniel dog breed. Ophthalmic abnormalities observed in retinopathy with vitamin E deficiency-affected English Cocker Spaniel include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and...

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Identifiers

PMID: 39874248
DOI: 10.1093/g3journal/jkaf016
PMCID: PMC12005162

Genes

TTPA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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