Peer-reviewed veterinary case report
Mismatch between eye exam and genetic test for choroidal hypoplasia
By Fredholm, M et al.·Published in Animal genetics·2016·Department of Veterinary Clinical and Animal Sciences·View original on PubMed →
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Original publication title: Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs.
- Species:
- dog
Plain-English summary
A group of Danish Rough Collies and Shetland Sheepdogs were studied to understand the eye condition known as Collie eye anomaly (CEA), which can cause vision problems. Researchers found that a specific genetic mutation linked to choroidal hypoplasia (a type of eye defect) was not a reliable indicator of the condition in Danish Rough Collies, while it was accurate for Shetland Sheepdogs. This means that while the genetic test can help diagnose CEA in Shetland Sheepdogs, it may not be useful for Danish Rough Collies. Pet owners should consult their veterinarians for proper eye examinations if they notice any vision issues in their dogs.
People also search for: Collie eye anomaly symptoms · Shetland Sheepdog eye problems · dog genetic testing for vision issues
Abstract
Collie eye anomaly (CEA) is a congenital, inherited ocular disorder which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination. A 7.8-kb intronic deletion in the gene encoding non-homologous end-joining factor 1 (NHEJ1) has been reported to be the causative mutation underlying CH when present in the homozygous state. In this study, we have investigated the compliance between the clinical and genetic diagnosis of CH in the Danish Rough Collie and Shetland Sheepdog populations. Our results show that the deletion in NHEJ1 is not predictive for CH in the Danish Rough Collie population, whereas the clinical and genetic diagnosis is in accordance with each other in the Shetland Sheepdog population. Based on these results, it can be concluded that the intronic deletion in NHEJ1 is not the causative mutation but, rather, a marker linked to the locus underlying the trait in some populations but linked to both the wild-type and CH-causing locus in most dogs in the Danish Rough Collie population.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/26732749/