Document Detail

Canine multifocal retinopathy in the Australian Shepherd: a case report.
MedLine Citation:
PMID:  22432598     Owner:  NLM     Status:  MEDLINE    
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.
Ingo Hoffmann; Karina E Guziewicz; Barbara Zangerl; Gustavo D Aguirre; Christian Y Mardin
Related Documents :
17525978 - The importance of genetic counseling for individuals with schizophrenia and their relat...
8825888 - Linkage results on 11q21-22 in eastern quebec pedigrees densely affected by schizophrenia.
17179078 - G72/g30 genes and schizophrenia: a systematic meta-analysis of association studies.
24957628 - Genetic and environmental influences on the relationship between adult adhd symptoms an...
21595938 - Rheumatoid arthritis-associated polymorphisms are not protective against alzheimer's di...
16145278 - Genetics, neuroscience and psychiatric classification.
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.
Tieraerztliche Praxis für Augenheilkunde, 90471 Nuernberg, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Dog Diseases / genetics*,  pathology
Eye Proteins / genetics,  metabolism
Genetic Predisposition to Disease / genetics*
Retinal Diseases / genetics,  veterinary*
Grant Support
Reg. No./Substance:
0/Eye Proteins

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

Previous Document:  T-cell lymphoblastic lymphoma/leukemia presenting as a pituitary mass lesion: A case report and revi...
Next Document:  Agreement between parent-adolescent ratings on psychosocial outcome and quality-of-life following ch...