Document Type

Journal Article

Date of this Version

9-2012

Publication Source

Veterinary Opthalmology

Volume

15

Issue

Issue Supplement s2

Start Page

134

Last Page

138

DOI

10.1111/j.1463-5224.2012.01005.x

Abstract

A 1-year-old Australian Shepherd (AS) was presented for a routine hereditary eye examination. During the examination multiple raised, brown to orange lesions were noted in the fundus, which could not be attributed to a known retinal disease in this breed. As they clinically most closely resembled canine multifocal retinopathy (cmr) and no indication of an acquired condition was found, genetic tests for BEST1 gene mutations were performed. These showed the dog to be homozygous for the cmr1 (C73T/R25X) gene defect. Furthermore, ultrasound (US), electroretinography (ERG), and optical coherence tomography were performed, confirming changes typical for cmr. Subsequently, the AS pedigree members were genetically and clinically tested, demonstrating autosomal recessive inheritance with no clinical symptoms in carrier animals, as was previously described for cmr. To our knowledge, this is the first reported case of canine multifocal retinopathy in the AS breed. Further investigations are under way.

Copyright/Permission Statement

This is the accepted version of the article, which has been published in final form at 10.1111/j.1463-5224.2012.01005.x.

Keywords

Australian Shepherd, BEST1, canine multifocal retinopathy, cmr1, multifocal retinal detachments, optical coherence tomography

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Date Posted: 06 May 2015

This document has been peer reviewed.