00866-A: Phenotypic Characterization Using Electroretinography in Hereditary Retinal Degeneration of English Springer Spaniels

Grant Status: Closed

Grant Amount: $8,739.63
Kristina Narfstrom, DVM, PhD; University of Missouri, Columbia
December 1, 2006 - November 30, 2007


Breed(s): English Springer Spaniel
Research Program Area: Ophthalmology
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Progressive retinal atrophy (PRA) is a blinding disease that affects more than 100 canine breeds. We propose to characterize the disease in the English Springer Spaniel in order to prepare for future molecular genetic studies. For this we will use new portable electroretinography equipment (ERG) that can measure retinal function objectively. By using ERG, affected dogs will be found at an early time point in their lives, well before they are used for breeding purposes. Preliminary studies in families of dogs using our ERG have shown that not only the outer retina is affected in Springer Spaniel PRA but also the inner retina early in the disease process. This is different from what has been found in PRA of other dog breeds. We propose to diagnose 10 cases with early PRA through objective studies using the portable ERG with a predetermined and automated protocol. Then we will combine the results of the clinical studies with those from the study of eye tissues that we have already obtained from affected dogs. Our ultimate goal is to find the mutation and provide a test, which will enable us to identify carriers and affected dogs shortly after birth.


Narfström, K., Jeong, M., Hyman, J., Madsen, R. W., & Bergström, T. F. (2012). Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to an RPGRIP1 Mutation. Stem Cells International, 2012, 1–12. https://doi.org/10.1155/2012/685901

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