Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel.

Autor: Gornik KR; Department of Clinical Sciences, Tufts Cummings School of Veterinary Medicine, 200 Westboro Road, North Grafton, MA, 01536, USA., Pirie CG, Duker JS, Boudrieau RJ
Jazyk: angličtina
Zdroj: Veterinary ophthalmology [Vet Ophthalmol] 2014 Sep; Vol. 17 (5), pp. 368-72. Date of Electronic Publication: 2013 Sep 03.
DOI: 10.1111/vop.12095
Abstrakt: A 7-month-old male intact Boerboel presented to the Cummings School of Veterinary Medicine at Tufts University for the evaluation of ocular discharge. Bilateral multifocal serous retinal detachments were noted on fundus examination as an incidental finding. Genetic testing confirmed the dog to be homozygous for a mutation in the BEST1 gene, where a C73 T/R25 X change results in premature termination codon. Further testing, including electroretinography and optical coherence tomography (OCT), demonstrated that there was no evidence of retinal photoreceptor dysfunction and confirmed that observed lesions were characteristic of canine multifocal retinopathy. No progression of the lesions was noted 3 months after the initial examination. To the authors' knowledge, this is the first report of canine multifocal retinopathy in the Boerboel breed.
(© 2013 American College of Veterinary Ophthalmologists.)
Databáze: MEDLINE
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