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

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.