title: Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel.
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.
authors.affiliation: Department of Clinical Sciences, Tufts Cummings School of Veterinary Medicine, 200 Westboro Road, North Grafton, MA, 01536, USA.
authors.forename: Kara R
authors.initials: KR
authors.lastname: Gornik
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Pirie
authors.forename: Jay S
authors.initials: JS
authors.lastname: Duker
authors.forename: Randy J
authors.initials: RJ
authors.lastname: Boudrieau
mesh_terms: D000818:Animals; D001947:Breeding; D003937:Diagnosis, Differential; D004283:Dog Diseases / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D005136:Eye Proteins / Q000235:genetics*; D005820:Genetic Testing; D008297:Male; D009154:Mutation; D012164:Retinal Diseases / Q000235:genetics / Q000662:veterinary*
chemical_list: D005136:Eye Proteins
keywords: BEST1; Boerboel; canine multifocal retinopathy; cmr1; inherited retinopathy; serous retinal detachment