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Progressive Retinal Atrophy Study
WE NEED YOUR HELP!

Participate in the genetics study on progressive retinal atrophy (PRA) in English Springer Spaniels (ESSs)! Penn Vet ophthalmologist researcher, Keiko Miyadera DVM PhD DACVO, will be on site during the National Specialty to provide complimentary eye exams including a special retinal test (electroretinogram) and blood collection for DNA testing. AKC registration or participation in the specialty is not required. Dogs with known DNA test status of “Affected” or dogs with any vision issue are encouraged to participate and dogs that have been previously tested and identified to have eye or vision changes are especially needed. Your dog could help us answer the question! Dr. Keiko Miyadera (kmiya@upenn.edu) can be contacted for any questions regarding participation.

Download the PRA Study form (button below)  for participation at the National Specialty (to be filled in advance or on-site). If available, please bring copies of any historical eye exam reports and a copy of your dog’s registration and pedigree (if applicable).

For more information, please contact Dr. Keiko Miyadera at kmiya@upenn.edu or Liz Pike, at liz.westring@gmail.com, ESS Foundation President.

Background Information

A mutation in the gene RPGRIP1 has previously been associated with PRA, a blinding retinal disease in dogs. This mutation can occur in the ESSs and a DNA test has been available for over a decade. However, despite the mutation being rather common in ESSs, very few ESSs seemed to be clinically afflicted with PRA. The aim of the study is to find out if and how the DNA testing result correlates with vision and retinal health of ESSs. It is suspected that some dogs DNA tested as affected carry a modifier gene variant that rescues the dogs from going blind.

DNA Bank

Duplicate samples will be sent to the University of Missouri for storage in the ESS If requested, duplicate blood samples will be sent to the University of Missouri for storage in the ESS Foundation DNA Bank.  This valuable resource provides great opportunities for future research projects.  Samples will be collected and submitted at no cost to the owner.  Please visit the English Springer Spaniel Foundation Website, for additional information about the DNA bank.

Testing

Testing will be available from Tuesday, 8/30 through Saturday, 9/3 in the Service Center and you can sign up at Show Central when you arrive.  Both the eye exam and banking of blood will be at no cost to participants.  

For more information, please contact Dr. Keiko Miyadera at kmiya@upenn.edu or Liz Pike, at liz.westring@gmail.com, ESS Foundation President.