Peer-reviewed veterinary case report
Retinal disease linked to BEST1 gene mutation in Boerboel dogs
By Gornik, Kara R et al.·Published in Veterinary ophthalmology·2014·Department of Clinical Sciences, United States·View original on PubMed →
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Original publication title: Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel.
- Species:
- dog
Plain-English summary
A 7-month-old male Boerboel was brought in because of eye discharge. During the exam, the vet found fluid buildup in the retina, which is a sign of a condition called canine multifocal retinopathy. Genetic testing revealed a mutation in a specific gene that can cause this issue, but further tests showed that the dog's vision was not affected. Fortunately, there was no worsening of the eye condition after three months. This case is the first known report of this eye problem in Boerboels.
People also search for: Boerboel eye discharge · canine multifocal retinopathy treatment · dog retinal problems
Abstract
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/23998685/