Peer-reviewed veterinary case report
Australian Shepherd puppy diagnosed with inherited multifocal
By Hoffmann, Ingo et al.·Published in Veterinary ophthalmology·2012·Tieraerztliche Praxis fü, Germany·View original on PubMed →
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Original publication title: Canine multifocal retinopathy in the Australian Shepherd: a case report.
- Species:
- dog
Plain-English summary
A 1-year-old Australian Shepherd was brought in for a routine eye exam, where the vet found unusual brown to orange lesions in the dog's eyes. These lesions were suspected to be a genetic condition called canine multifocal retinopathy (cmr), which is not commonly seen in this breed. Genetic testing confirmed that the dog had a specific gene mutation linked to cmr. The vet also performed additional tests to confirm the diagnosis and found that the condition is inherited in a way that doesn't show symptoms in carrier dogs. This case is the first of its kind reported in Australian Shepherds, and further research is planned.
People also search for: Australian Shepherd eye problems · canine multifocal retinopathy symptoms · genetic testing for dog eye diseases
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22432598/