Abstract
Progressive Retinal Atrophy (PRA) is an inherited retinal disorder that leads to gradual vision loss in numerous dog breeds. In this study, 15 Japanese Spitz dogs were evaluated through indirect ophthalmoscopy. Three of these dogs were confirmed by the European College of Veterinary Ophthalmologists (ECVO) to have PRA. These three dogs also underwent Next-Generation Sequencing (NGS) for over 17 PRA-specific retinal mutations variants. These tests identified the PRA-rcd4 mutation in the ECVO-confirmed PRA affected dogs. Additionally, all 15 dogs underwent targeted testing for PRA-rcd4, and results confirmed the presence of this mutation. These findings emphasize the need for routine genetic screening. It can guide breeding strategies. It also improves clinical management in the Japanese Spitz breed.
Keywords
C17H2orf71; C2orf71; PRA; blindness; progressive retinal atrophy
Also available at https://doi.org/10.5281/zenodo.15767318
© The Author(s) 2025.
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[…] Malinina, Y. (2025). Progressive retinal atrophy in the Japanese Spitz dog: A clinical and genetic study. Progressive retinal atrophy in the Japanese Spitz dog: a clinical and genetic study […]