Peer-reviewed veterinary case report
Genetic variant linked to glaucoma and eye ligament issues in UK
By Oliver, James A C et al.·Published in Veterinary ophthalmology·2020·Ophthalmology Service, United Kingdom·View original on PubMed →
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Original publication title: A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom.
- Species:
- dog
Plain-English summary
A group of Border Collies in the UK was studied to see if a specific genetic variant (OLFML3) was linked to eye problems, specifically pectinate ligament abnormality (PLA) and primary closed-angle glaucoma (PCAG). Out of 106 dogs, those with the variant were more likely to have these eye issues compared to those without it. The researchers found that about 4.4% of Border Collies carry this variant, which was not seen in affected dogs of other breeds. DNA testing for this variant could help in breeding healthier dogs and reduce the occurrence of these serious eye conditions.
People also search for: Border Collie eye problems · primary closed-angle glaucoma in dogs · genetic testing for dog eye disease
Abstract
PURPOSE: Canine primary closed-angle glaucoma (PCAG) is a complex disease caused by multiple genetic factors. A c.590G>A variant in OLFML3 was recently reported to be a candidate for pectinate ligament abnormality (PLA) and PCAG in the Border Collie. We investigated the association of this variant with PLA and PCAG in Border Collies from the United Kingdom. METHODS: The OLFML3 variant was genotyped in 106 Border Collies comprising 90 with normal eyes (controls) and 16 with PLA (n = 11) and/or PCAG (n = 5) (cases). Genotyping was performed in an additional 103 Border Collies to estimate variant frequency within the population. To investigate the association of the variant with disease in other breeds, genotyping was performed in 337 non-Border Collies with PLA and/or PCAG. RESULTS: Of the 90 controls, 71 were homozygous for the wild-type allele, two were homozygous for the variant, and 17 were heterozygous. Of the 16 cases, three were homozygous for the wild-type allele, 11 were homozygous for the variant, and two were heterozygous. The association of the variant allele with disease was significant (P = 1.1 x 10). We estimated the frequency of this variant to be 4.4% within the United Kingdom Border Collie population, and it was not identified in clinically affected dogs of any other breed. CONCLUSIONS: This study confirms the association of the OLFML3 variant with PLA and PCAG in Border Collies from the United Kingdom. DNA testing for the variant and selective breeding can reasonably be expected to result in a reduction of PLA and PCAG prevalence in the breed.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/31141290/