Document Detail


Canine multifocal retinopathy in the Australian Shepherd: a case report.
MedLine Citation:
PMID:  22432598     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Ingo Hoffmann; Karina E Guziewicz; Barbara Zangerl; Gustavo D Aguirre; Christian Y Mardin
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-03-20
Journal Detail:
Title:  Veterinary ophthalmology     Volume:  15 Suppl 2     ISSN:  1463-5224     ISO Abbreviation:  Vet Ophthalmol     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-09-05     Completed Date:  2013-01-02     Revised Date:  2013-10-17    
Medline Journal Info:
Nlm Unique ID:  100887377     Medline TA:  Vet Ophthalmol     Country:  England    
Other Details:
Languages:  eng     Pagination:  134-8     Citation Subset:  IM    
Copyright Information:
© 2012 American College of Veterinary Ophthalmologists.
Affiliation:
Tieraerztliche Praxis für Augenheilkunde, 90471 Nuernberg, Germany. info@tieraugenheilkundefranken.de
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MeSH Terms
Descriptor/Qualifier:
Animals
Dog Diseases / genetics*,  pathology
Dogs
Eye Proteins / genetics,  metabolism
Female
Genetic Predisposition to Disease / genetics*
Genotype
Retinal Diseases / genetics,  veterinary*
Grant Support
ID/Acronym/Agency:
R01 EY017549/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Eye Proteins
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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