Characterization of retinal phenotypes and their association with RPGRIP1 and modifiers in English Springer Spaniels

Breed(s): English Springer Spaniel
Study Type: DNA Sample
Study Location: University of Pennsylvania

A mutation in the gene RPGRIP1 has previously been associated with a blinding retinal disease (PRA, cord1, or crd4) in the Dachshunds. Later, the same mutation was found to be relatively common in the English Springer Spaniels (ESS). This is despite the low incidence of clinically affected ESS. Due to this discrepancy, the significance of the RPGRIP1 DNA testing in ESS has been ambiguous. The purpose of this study is to clarify the relation between the RPGRIP1 mutation and retinal diseases in ESS. We suspect that multiple factors are involved, including RPGRIP1. Our goal is to tease out the individual factors and establish a reliable set of DNA tests that allows accurate prediction of the course of disease.

Participation Requirements:

1) Clinically diagnosed with retinal degeneration (PRA) or suspicious retinal lesions;

2) DNA tested as RPGRIP1 affected;

3) Any dog related to dogs in 1) and 2);

4) Any ESS dog that can participate in an eye exam session at Penn Vet or other designated locations (TBC).

Owner Responsibilities (samples and information to be collected):

  • Blood sample (2ml x2 EDTA tubes)
  • Copy of pedigree
  • Copy of eye examination

Read more about CHF Grant #2572-MOU!

Learn more about this study at Dr. Miyadera's Lab here. Click on the 'Participate' tab.

Download the Research DNA Submission Form.

More Information


Contact Information:

Name: Keiko Miyadera


Phone: 215-573-4319

Help Future Generations of Dogs

Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.

Learn How to Help

Make an Investment Today:

  • $50
  • $100
  • $250
  • $1000
  • Give Now
Connect With Us:
Get Canine Health News:
Please leave this field empty

© 2018 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.

Powered by Blackbaud
nonprofit software