Research Objective:

Develop a mutation-based DNA test that identifies the actual mutant prcd gene that causes Progressive Retinal Atrophy in the Portuguese Water Dog

Principal Investigators:

Dr. Gustavo D. Aguirre
Dr. Gregory M. Acland
University of Pennsylvania

Abstract:

Progressive Retinal Atrophy (PRA) is an inherited eye disease that cause blindness in dogs. In Portuguese Water Dogs, it is a form of PRA called prcd or progressive rod-cone degeneration and is inherited through an autosomal recessive gene. Because the disease can be passed on only if both dogs carry the gene, a test that identifies carriers will help breeders make appropriate choices when selecting breeding pairs. The research approach involves using genes already identified as candidates for causing prcd. A mutation-based DNA test would single out the mutant prcd defect in every affected or carrier individual and would be unequivocally accurate. It is also less costly and easier to perform than the current linkage-based test.