Peer-reviewed veterinary case report
Progressive vision loss and blindness in Border Collies from age 3
By Vilboux, Thierry et al.·Published in BMC veterinary research·2008·IGDR CNRS, France·View original on PubMed →
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Original publication title: Progressive retinal atrophy in the Border Collie: a new XLPRA.
- Species:
- dog
Plain-English summary
A 3-year-old Border Collie was diagnosed with progressive retinal atrophy (PRA), which caused a gradual loss of night vision and day vision, ultimately leading to complete blindness. The condition was identified through eye examinations and specialized tests that showed typical signs of PRA. Genetic testing ruled out known mutations associated with other forms of PRA, suggesting this is a new variant specific to Border Collies. Unfortunately, there is currently no cure for this condition, and affected dogs will require support as their vision deteriorates.
People also search for: Border Collie vision problems · progressive retinal atrophy in dogs · dog blindness treatment
Abstract
BACKGROUND: Several forms of progressive retinal atrophy (PRA) segregate in more than 100 breeds of dog with each PRA segregating in one or a few breeds. This breed specificity may be accounted for by founder effects and genetic drift, which have reduced the genetic heterogeneity of each breed, thereby facilitating the identification of causal mutations. We report here a new form of PRA segregating in the Border Collie breed. The clinical signs, including the loss of night vision and a progressive loss of day vision, resulting in complete blindness, occur at the age of three to four years and may be detected earlier through systematic ocular fundus examination and electroretinography (ERG). RESULTS: Ophthalmic examinations performed on 487 dogs showed that affected dogs present a classical form of PRA. Of those, 274 have been sampled for DNA extraction and 87 could be connected through a large pedigree. Segregation analysis suggested an X-linked mode of transmission; therefore both XLPRA1 and XLPRA2 mutations were excluded through the genetic tests. CONCLUSION: Having excluded these mutations, we suggest that this PRA segregating in Border Collie is a new XLPRA (XLPRA3) and propose it as a potential model for the homologous human disease, X-Linked Retinitis Pigmentosa.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18315866/