A Focus on Eyes

Last month we told you about an eye disease variant we recently identified in the English Shepherd Breed. Today we wanted to give you a bit more information on the research we do into inherited eye diseases (IED), all of which is now carried out under the CRIEDD (Consortium to Research Inherited Eye Diseases in Dogs ) project. The group has always had a keen interest in the field of IEDs, and have collectively identified 23 IED causing variants, more than any other research group. We publish all of the research that we do, but we have also compiled a database that contains not only our variants, but all published IED variants that anyone can access through our published online database. You can search for variants reported in a particular breed, or by the disease.

One of the projects that we are currently working on, is into the genetic cause of retinal pigment epithelial dystrophy (RPED) in cocker spaniels. This is a disease whereby lipopigment builds up within the retina, ultimately causing photoreceptor cell degeneration and therefore blindess for the affected dog. An interesting aspect of the disease is that all RPED-affected dogs have extremely low circulating vitamin E levels. We carried out a Genome Wide Association Study using cocker spaniel RPED cases and controls to see if we could identify the region that associates with the disease. The snapshot below is the result, one which we call, a “stonking peak” on chromosome 28. However, finding the precise variant has been challenging, even with the help of the GWAS results. We do have a promising candidate variant but we would welcome any DNA sample submissions from RPED cases to help us with this project. You can click on this link and request a buccal swab kit from our website here