Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation

General Information: Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV) affects dogs from a young age, typically presenting with visual impairments by 4-5 months. As the disease progresses, it manifests more broadly as a neurological disorder, with affected dogs developing severe ataxia, paralysis of the larynx, and distinctive changes in their breathing sounds and bark tone. Additionally, these dogs exhibit ocular issues such as small, underdeveloped eyes, cataracts, and persistent pupillary membranes that obstruct vision. The combination of progressive neurological decline and visual deficits severely impacts the quality of life, often necessitating medical intervention due to complications like regurgitation and the inability to move normally.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the RAB3GAP1 gene is critical for identifying carriers of Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV), which is transmitted through an autosomal recessive inheritance pattern. Dogs must inherit two copies of the mutated gene—one from each parent—to show symptoms of the disease. Carriers, possessing only one copy, typically do not exhibit any symptoms but can produce affected offspring if mated with another carrier. In such matings, there is a 25% chance of producing affected offspring and a 50% chance of producing carriers. Responsible breeding practices are essential to mitigate the spread of this gene; thus, breeding of known carriers is strongly discouraged to prevent the occurrence of this debilitating condition in puppies. Through proactive genetic testing and selective breeding, breeders can work toward eradicating this mutation from the gene pool and maintaining the health and vitality of the breed.