Collie Eye Anomaly in Australian Kelpie dogs in Poland

Autor:	Natalia Kucharczyk, Peter G. C. Bedford, Anna Cislo-Pakuluk
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	Male medicine.medical_specialty Australian Kelpie 040301 veterinary sciences Case Report 0403 veterinary science 03 medical and health sciences Dogs 0302 clinical medicine Ophthalmology NHEJ1 gene medicine Animals Genetic Predisposition to Disease Dog Diseases Young female lcsh:Veterinary medicine General Veterinary business.industry Collie Collie Eye Anomaly Choroid Diseases 04 agricultural and veterinary sciences General Medicine medicine.disease Hypoplasia Indirect ophthalmoscopy eye diseases Pedigree DNA-Binding Proteins Collie eye anomaly DNA Repair Enzymes medicine.anatomical_structure Choroidal hypoplasia Mutation 030221 ophthalmology & optometry lcsh:SF600-1100 Female Poland sense organs business Optic disc
Zdroj:	BMC Veterinary Research, Vol 15, Iss 1, Pp 1-4 (2019) BMC Veterinary Research
ISSN:	1746-6148
DOI:	10.1186/s12917-019-2143-y
Popis:	Background To report the occurrence of choroidal hypoplasia in the Australian Kelpie breed in Poland, the affected dogs testing positive for the Collie Eye Anomaly NHEJ1 gene mutation. Case presentations Choroidal hypoplasia (CH) was initially diagnosed in a young female Australian Kelpie presented for routine ophthalmological examination prior to breeding. Indirect ophthalmoscopy revealed tigroid fundi bilaterally with areas of abnormally arranged choroidal vasculature temporal to the optic disc. These lesions had the appearance of the choroidal hypoplasia diagnostic for Collie Eye Anomaly, a genetically determined disease seen most commonly in Collie types. The DNA based test for the NHEJ1 gene mutation that is confirmatory for Collie Eye Anomaly proved the dog to be homozygous for this mutation. Twenty one other related dogs were subsequently examined genetically, the dam proving to be affected and eight others were shown to be carriers. Conclusions This report demonstrates that Collie Eye Anomaly is present in a Polish bred Australian Kelpie line and as such breeders in this country and those importing dogs or semen internationally should be aware of other possible cases.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dbdd65ab8cb811cfc0bcfe65f8732c4 http://link.springer.com/article/10.1186/s12917-019-2143-y Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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