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Study Links Genes to Retinal Diseases

An estimated 80 to 100 dog breeds are affected by diseases that cause blindness, such as progressive retinal atrophy (PRA), or eye diseases that are caused by inherited genetic mutations. Early detection is difficult, and dogs are often bred before disease is identified. As a result, diseases are passed on to new generations of puppies. Identification of genes and mutations is critical to reducing disease frequency while maintaining genetic diversity in breeds. Funding from Morris Animal Foundation has allowed researchers at the University of Pennsylvania to identify the genetic causes for many types of blindness in dogs. From these discoveries, DNA-based tests were developed to detect 11 genes linked to retinal diseases that affect more than 47 breeds of dogs. In this study, researchers identified the chromosomal location of disease-causing genes for oculoskeletal retinal dysplasia disorders in Labrador Retrievers and Samoyeds. They also developed DNA tests to identify dogs that are carriers for this type of retinal dysplasia, although they determined that there isn’t a perfect association between the clinical signs of retinal dysplasia and the mutation. Using these tests, scientists found that the mutations responsible for retinal dysplasia in Labrador Retrievers and Samoyeds are not responsible for retinal dysplasia in other breeds. The findings demonstrate that there is a disassociation between the clinical and molecular diagnoses of this disease in different breeds and underscore the importance of DNA testing to ascertain disease risk in individual dogs. This study takes key steps toward the goal of providing veterinarians and breeders with the genetic tools to prevent and control inherited retinal diseases that cause blindness and severe visual impairment in dogs. In complementary studies, the researchers have characterized a specific gene as a potential disease modifier and have identified the mutation responsible for early retinal degeneration in Norwegian Elkhounds. (D07CA-008)


Posted by MAFon April 25, 2011.

Categories: Animal health, Canine health, Dog health

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