Progressive Retinal Atrophy Research for English Springer Spaniels
Progressive Retinal Atrophy (PRA) of English Springer Spaniels is an adult-onset (late-onset) degeneration of retina that causes blindness. It is believed to have an autosomal recessive inheritance pattern, but the genetic mutation for PRA in English Springer Spaniels is not known and there is no genetic test for it. It is, unfortunately, most commonly diagnosed later in life through ophthalmic examination, and usually after the affected dog has passed this trait to its offspring. It is our goal to develop a genetic test for PRA in this breed so that affected and carrier animals can be detected before they are committed to breeding programs.
As of March 2007, we have identified 67 individuals in our collection of 2028 English Springer Spaniels that are reported by their owners as affected with PRA, and 230 relatives of these dogs that are reported normal. From this, we have assembled an extended family group of 39 affected dogs and 68 normal relatives to use for mapping the disease. We have also been contacting owners to verify the age at which their dog was diagnosed by an ACVO ophthalmologist as affected with PRA. A chart showing the age of diagnosis for the 40 dogs confirmed thus far is below:
We are interested in updates for dogs already in our collection, and additional samples from PRA-affected dogs that have not yet been collected, as well as the normal relatives of these affected dogs. Please see the instructions and form for sending samples in the SAMPLE SUBMISSION section of this website.