Collie eye anomaly: a review

Palanová, A

doi:10.17221/8381-vetmed

Cited by 9 publications

(22 citation statements)

References 20 publications

(24 reference statements)

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“…Collie eye anomaly (CEA) is a canine hereditary ocular disease that involves the poor development of choroid and sclera, with varying manifestations. Overall, CEA is a congenital non-progressive disorder with asymmetrical bilateral lesions [1,2]. Choroidal hypoplasia in the temporal region to the optic disk is a typical clinical feature of CEA.…”

Section: Introductionmentioning

confidence: 99%

“…Additional clinical features, including intraocular hemorrhage, retinal detachment, and microphthalmos, may be observed in CEA. Most affected dogs retain normal visual function for their entire lives, whereas blindness can occur at a low prevalence in those with complete retinal detachment or intraocular hemorrhage [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…CEA can be diagnosed accurately through ophthalmoscopic examination during 6-8 weeks of age. Beyond this period, the chorioretinal lesion is probably covered by retinal pigmentation, thus making the eye appear normal (so-called "go-normal phenomenon") and resulting in misdiagnosis [1][2][3]5]. In 2007, Parker et al [6] discovered the causative mutation underlying CEA by fine-mapping and mutation analysis.…”

Section: Introductionmentioning

confidence: 99%

“…This finding provides an effective diagnostic tool for identifying CEA based on the NHEJ1 genotyping. The first CEA case was reported in Smooth and Rough Collies, Border Collies, and Shetland Sheepdogs [1,2]. Several breeds, including Australian Shepherds, Lancashire Heelers, Australian Kelpies, Boykin Spaniels, Longhaired Whippets, Nova Scotia Duck Tolling Retrievers, Silken Windhounds, and Available at www.veterinaryworld.org/Vol.15/January-2022/17.pdf Hokkaido dogs, have been diagnosed with CEA to date [6][7][8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

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A novel multiplex polymerase chain reaction assay for the genotypic survey of the non-homologous end-joining factor 1 gene associated with Collie eye anomaly in Thailand

Lerdkrai

Phungphosop

2022

Vet World

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Background and Aim: Collie eye anomaly (CEA) is a hereditary and congenital ocular disorder, which affects several dog breeds, including Collies, Collie-related breeds, and other purebreds. An intronic deletion of 7799-bp in the non-homologous end-joining factor 1 (NHEJ1) gene has been identified as the genetic defect causing CEA. This study aimed to investigate the prevalence of CEA based on NHEJ1 genotyping assay in Thailand. Materials and Methods: We clarified the prevalence of CEA in 224 dogs from five purebred dog breeds using a novel multiplex polymerase chain reaction (PCR)-based technique and confirmed the genotypic status with direct DNA sequencing. Results: The highest frequency of the mutated NHEJ1 allele was 83.3% for Rough Collies, followed by 7.8% for Border Collies, 5.1% for Australian Shepherds, and 2.8% for Shetland Sheepdogs. The heterozygous mutated NHEJ1 genotype detected for Rough Collies, Border Collies, Australian Shepherds, and Shetland Sheepdogs was 33.3%, 15.6%, 10.3%, and 3.3%, respectively. The homozygous mutated NHEJ1 genotype was detected only in Rough Collies and Shetland Sheepdogs, accounting for 66.7% and 1.1%, respectively. Thai Ridgeback Dogs were not affected by this mutation. Conclusion: This study describes, for the 1st time, the genotypic survey of the NHEJ1 gene associated with CEA in dogs in Thailand. In addition, we successfully developed a new multiplex PCR assay with high accuracy, reproducibility, and cost-efficiency and validated its usefulness for determining NHEJ1 genotypes.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A novel multiplex polymerase chain reaction assay for the genotypic survey of the non-homologous end-joining factor 1 gene associated with Collie eye anomaly in Thailand

Lerdkrai

Phungphosop

2022

Vet World

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“…Some other breeds may be affected by CEA, but the disease has not been identified in others to date. The causative mutation for CEA was identified in the nonhomologous end joining factor 1 ( NHEJ1 ) gene as a large deletion in intron 4, which contains several highly conserved elements (reviewed by Palanova 76 ).…”

Section: Collie Eye Anomalymentioning

confidence: 99%

The genetics of inherited retinal disorders in dogs: implications for diagnosis and management

Palanová¹

2016

VMRR

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Dogs are affected by many hereditary diseases just as humans are. One group of these diseases comprises of retinal disorders, which are a growing problem in canine breeding. These disorders are heterogeneous, with diverse causative mutations and modes of inheritance. Some affect only one breed, while others may affect many breeds; some breeds are affected by only one disease, while others can be affected by two or more. Dog breeders should take into account the presence of any deleterious alleles when choosing parents for the next generation.

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Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy

Marelli

Rizzi

A³

et al. 2022

Veterinary Record Open

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Background: A 7.8-kb deletion in intron 4 of the NHEJ canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three genotypes: normal, carrier and affected. The present study is a retrospective investigation of the presence of the CEA allele frequencies in selected breeds from the Italian dog population over a 10-year time span. Methods: Genotype data, for the 7.8 kb deletion in intron 4 of the NHEJ gene, from 496 dogs belonging to Border collie (BC, n = 334), Shetland Sheepdog (SS, n = 74), Australian Shepherd (AS, n = 52), Nova Scotia Duck Tolling Retriever (NS, n = 20) and Rough Collie (RC, n = 16) were analysed. The genetic frequency of CEA allele was estimated in breeds with higher observations (BC, SS and AS). Results: Healthy carriers were 50%, 45%, 29.6%, 17.3% and 12.5% in SS, NS, BC, AS and RC, respectively. The affected recessive homozygotes were 81.3%, 10.8% and 1.5% in RC, SS and BC, respectively. The CEA allelic frequencies were 0.36, 0.16 and 0.087 in SS, BC and AS, respectively. Conclusion:The results support the usefulness of this type of genetic analysis to optimize the care of dogs where the CEA mutation is present, including assessing the health risk to susceptible dogs within a breed and to provide an objective basis for breeding programmes.

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Collie eye anomaly: a review

Cited by 9 publications

References 20 publications

A novel multiplex polymerase chain reaction assay for the genotypic survey of the non-homologous end-joining factor 1 gene associated with Collie eye anomaly in Thailand

A novel multiplex polymerase chain reaction assay for the genotypic survey of the non-homologous end-joining factor 1 gene associated with Collie eye anomaly in Thailand

The genetics of inherited retinal disorders in dogs: implications for diagnosis and management

Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy

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