Archives for Nov. 5, 2014

Progressive Retinal Atrophy: An Inherited Disease of the English Springer Spaniel

Progressive Retinal Atrophy: An Inherited Disease of the English Springer Spaniel

The intelligent, prey-driven English springer spaniel (ESS) has forged its path as a popular, hardworking companion for bird hunters while maintaining a loyal and affectionate personality suitable to family life. Until the early 1900’s, springer spaniels were produced in the same litters as cocker spaniels; springers were chosen from the largest puppies of the litter and were trained for flushing or “springing” game while the smaller littermates were labeled cocker spaniels and were trained for hunting the elusive woodcock. Since then, springer spaniels have been further split into the generally leaner, shorter haired field (hunting) variety and the denser boned, densely haired show (“bench”) line. Unfortunately, like other purebred dogs, English springer spaniels are known to inherit genetic diseases that can keep some individuals from reaching the great potentials for which the breed is capable. One such inherited condition is an eye disease known as progressive retinal atrophy, cone-rod dystrophy 4 (PRA-crd4) caused by a mutation in the RPGRIP1 gene.

Progressive retinal atrophy (PRA) is not a single disease, but rather a group of inherited diseases each caused by different genetic mutations in different genes. The various forms of PRA affect over 100 different dog breeds. Though there are variations ...