Literature DB >> 23998685

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

Kara R Gornik1, Christopher G Pirie, Jay S Duker, Randy J Boudrieau.   

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.
© 2013 American College of Veterinary Ophthalmologists.

Entities:  

Keywords:  BEST1; Boerboel; canine multifocal retinopathy; cmr1; inherited retinopathy; serous retinal detachment

Mesh:

Substances:

Year:  2013        PMID: 23998685     DOI: 10.1111/vop.12095

Source DB:  PubMed          Journal:  Vet Ophthalmol        ISSN: 1463-5216            Impact factor:   1.644


  2 in total

Review 1.  The genetics of inherited retinal disorders in dogs: implications for diagnosis and management.

Authors:  Anna Palanova
Journal:  Vet Med (Auckl)       Date:  2016-03-15

2.  Optical coherence tomography and molecular analysis of sudden acquired retinal degeneration syndrome (SARDS) eyes suggests the immune-mediated nature of retinal damage.

Authors:  Sinisa D Grozdanic; Tatjana Lazic; Helga Kecova; Kabhilan Mohan; Markus H Kuehn
Journal:  Vet Ophthalmol       Date:  2018-08-15       Impact factor: 1.644

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.