02572-MOU: Characterization of Retinal Phenotypes and their Association with RPGRIP1 and Modifiers in English Springer Spaniels

Grant Status: Open

Grant Amount: $99,303
Keiko Miyadera, DVM, PhD; University of Pennsylvania
April 1, 2019 - March 31, 2021
Sponsor(s): English Springer Spaniel Field Trial Association Foundation
Breed(s): English Springer Spaniel
Research Program Area: Ophthalmology

Abstract

Advances in molecular techniques have led to the identification of nearly 30 gene mutations that cause inherited retinal diseases in dogs, often leading to loss of vision. While an insert in the RPGRIP1 gene has been linked to a blinding retinal disease first found in Dachshunds, this same mutation is very common in English Springer Spaniels (ESSs).  However, retinal diseases are rarely seen in this breed, raising the question as to whether the RPGRIP1 mutation by itself causes retinal disease. Notably, the research team has found similar mismatches between the mutation and the disease in Dachshunds, where the disease presentation varies greatly. In this breed, they found additional genetic factors or ‘modifiers’ that together with the RPGRIP1 mutation, are better able to predict the disease. This study will determine if these factors or additional factors yet to be identified also contribute to retinal disease severity in ESSs by 1) clinically characterize the spectrum of the retinal disease in ESSs, including functional tests to detect the earliest sign of disease in dogs with an apparently normal phenotype, and 2) study the relationship between the RPGRIP1 mutation and the disease status and then search for other genetic contributors specific to ESSs. By determining the role of the RPGRIP1 mutation in ESS retinal disease, a reliable DNA testing platform may be established.

Funding for the research is provided through the collaborative efforts and generosity of the English Springer Spaniel Field Trial Association Foundation. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress reports.

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