New Genetic Cause of Blindness in Dogs

Researchers from the University of Pennsylvania’s School of Veterinary Medicine and the University of Padova have discovered a novel genetic variant linked to progressive retinal atrophy (PRA) in three Labrador retrievers bred as service dogs. PRA is a type of inherited retinal disease (IRD) that leads to blindness in dogs and humans. The researchers identified a 3-base-pair deletion in the GTPBP2 gene, affecting a conserved alanine residue, which may disrupt the protein’s cellular localization rather than its enzymatic function.

This mutation was found only within a specific kennel, highlighting its rarity. While GTPBP2 mutations in humans are linked to severe conditions like Jaberi-Elahi syndrome, the affected dogs only exhibited retinal degeneration. The study suggests that some gene mutations can result in less severe or more isolated symptoms, offering insights into the flexible nature of genetic expression. The discovery may help guide future breeding strategies to prevent vision disorders in service dogs.