Advances in the molecular understanding of canine retinal diseases
Journal of Small Animal Practice
Volume 46 Issue 8 Page 371–380
This article was presented as a state-of-the-art lecture at BSAVA Congress, April 3 to 6, 2003, Birmingham, UK
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.