Peer-reviewed veterinary case report
Molecular advances in genetic retinal diseases in dogs
By Petersen-Jones, S·Published in The Journal of small animal practice·2005·Department of Small Animal Clinical Sciences, United States·View original on PubMed →
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Original publication title: Advances in the molecular understanding of canine retinal diseases.
- Species:
- dog
Plain-English summary
A study found that certain breeds of dogs, like the briard, can suffer from severe retinal diseases that lead to blindness. These conditions, similar to human retinal diseases, are often caused by genetic defects. Researchers have identified specific gene mutations responsible for these issues and developed DNA tests to help diagnose them. Recently, gene therapy has shown promise in restoring vision in dogs with a specific type of retinal dystrophy caused by a mutation in the RPE65 gene. This research not only helps dogs but also contributes to potential treatments for similar conditions in humans.
People also search for: dog retinal disease symptoms · briard blindness treatment · gene therapy for dogs vision loss
Abstract
Retinal dystrophies are a common cause of blindness in purebred dogs. Progressive retinal atrophy, the canine equivalent of retinitis pigmentosa in humans, is the most common dystrophy. Molecular studies have led to the identification of the genetic defect underlying some forms of progressive retinal atrophy and the mapping of the chromosomal location of others. Additionally, the gene mutation that causes a severe retinal dystrophy in the briard, which is the equivalent of Leber congenital amaurosis in humans, has been identified. These advances have led to the development of DNA-based diagnostic tests for some retinal dystrophies, thus facilitating their eradication. The study of these dystrophies in dogs has also provided useful information about the equivalent diseases in humans. Recently, gene therapy has been used to restore vision to dogs with a retinal dystrophy due to a mutation in the RPE65 gene. Such studies are important in the quest to develop therapies for similar conditions in humans.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16119056/