Peer-reviewed veterinary case report
Australian Shepherd puppy diagnosed with multifocal retinopathy eye
By Hoffmann, Ingo et al.·Published in Veterinary Ophthalmology·2012·View original on Crossref →
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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 taken for a routine eye exam, where the vet found unusual brown to orange spots on the retina. These spots resembled a condition called canine multifocal retinopathy (cmr), which is a genetic eye disease. Genetic testing confirmed that the dog had a specific gene mutation linked to this condition. The findings also suggested that the disease could be passed down in the dog's family, even if other dogs showed no symptoms. This case is the first documented instance of cmr 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
AbstractA 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 Crossref: https://doi.org/10.1111/j.1463-5224.2012.01005.x