In collaboration with James Oliver, head of ophthalmology at Dick White Referrals, we have been researching retinopathy with vitamin E deficiency (RVED) in the English Cocker Spaniel (ECS) for a number of years. It has been a challenging project, so we are over the moon to report that we have identified the variant associated with the disease, and all of our findings have now been published in G3 Genes|Genomes|Genetics.
Oliver, J. A. C., Stanbury, K., Schofield, E., McLaughlin, B., & Mellersh, C. S. (2025). A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog. G3 Genes|Genomes|Genetics. https://doi.org/10.1093/g3journal/jkaf016
The Cocker Spaniel is one of the most popular dog breeds in the UK and so it is unsurprising that a number of inherited diseases have been reported over the years in this breed including Progressive Retinal Atrophy (PRA), Retinal Dysplasia (RD) and Retinopathy with Vitamin E Deficiency (RVED). A DNA test for PRA (prcd) has been available for a long time and so this disease is now, fortunately, very rare in this breed. Very recently, the Canine Genetics Centre has also solved the cause of RVED in this breed and so, with the use of DNA testing, this disease should be easy to eradicate in a few generations. 
A question that members of the Canine Genetics Centre (CGC) are sometimes asked is how we decide which diseases to investigate. The answer depends on a number of factors, the most important of which are DNA Samples, clinical expertise, breed community engagement, genetics expertise and funding. 
This week, we turn our focus to Dr Katherine Stanbury, who manages our inherited eye disease programme, 
The Canine Genetics Centre has worked closely with many breeds over the years, to investigate inherited disorders that represent a challenge to their health. In the first of a series of ‘
