Collie eye anomaly: a review

Collie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of ori...

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Main Author: A. Palanova
Format: Article
Language:English
Published: Czech Academy of Agricultural Sciences 2015-07-01
Series:Veterinární Medicína
Subjects:
Online Access:https://vetmed.agriculturejournals.cz/artkey/vet-201507-0001_collie-eye-anomaly-a-review.php
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author A. Palanova
author_facet A. Palanova
author_sort A. Palanova
collection DOAJ
description Collie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of origin. Dogs affected with this disease share a 7.8 kb deletion in intron 4 of the NHEJ1 gene. Inheritance of this disease is autosomal recessive with incomplete penetrance. Thanks to a commercially available genetic test breeders can identify genetically affected recessive homozygotes and clinically healthy but genetic carriers of the mutation and thus select healthy parents for the next generation of dogs. However, the exact cause of the disease is not known and it is not known whether the causative mutation influences the occurrence of some other diseases (e.g. immunodeficiencies).
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spelling doaj.art-5b7909c74f0946feb5f90e99d5cb253e2023-02-23T03:50:24ZengCzech Academy of Agricultural SciencesVeterinární Medicína0375-84271805-93922015-07-0160734535010.17221/8381-VETMEDvet-201507-0001Collie eye anomaly: a reviewA. Palanova0Institute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, Libechov, Czech RepublicCollie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of origin. Dogs affected with this disease share a 7.8 kb deletion in intron 4 of the NHEJ1 gene. Inheritance of this disease is autosomal recessive with incomplete penetrance. Thanks to a commercially available genetic test breeders can identify genetically affected recessive homozygotes and clinically healthy but genetic carriers of the mutation and thus select healthy parents for the next generation of dogs. However, the exact cause of the disease is not known and it is not known whether the causative mutation influences the occurrence of some other diseases (e.g. immunodeficiencies).https://vetmed.agriculturejournals.cz/artkey/vet-201507-0001_collie-eye-anomaly-a-review.phphereditaryeyediseasedog
spellingShingle A. Palanova
Collie eye anomaly: a review
Veterinární Medicína
hereditary
eye
disease
dog
title Collie eye anomaly: a review
title_full Collie eye anomaly: a review
title_fullStr Collie eye anomaly: a review
title_full_unstemmed Collie eye anomaly: a review
title_short Collie eye anomaly: a review
title_sort collie eye anomaly a review
topic hereditary
eye
disease
dog
url https://vetmed.agriculturejournals.cz/artkey/vet-201507-0001_collie-eye-anomaly-a-review.php
work_keys_str_mv AT apalanova collieeyeanomalyareview