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Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation

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Test Overview:

Polyneuropathy with ocular abnormalities and neuronal vacuolation affects dogs and is an inherited developmental disease. Dogs affected with this disorder initially present with visual deficits around 4-5 months of age. Within a few months, affected dogs can develop generalised neurologic dysfunction, severe Ataxia, and paralysis of the larynx resulting in excessive breathing sounds, an abnormal bark, and regurgitation. Affected dogs will also tend to have small, underdeveloped eyes, cataracts and abnormal membranes in the eyes, which often obstruct the pupils of the eyes (persistent pupillary membranes).

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

RAB3GAP1

Variant Detected:

chr19:37903870-37903871: 218 bp insertion; chr19:37903857-37903870: 14 bp duplication (dup CAGTACACTCATTT)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the RAB3GAP1 gene will reliably determine if a dog is a genetic carrier of polyneuropathy with ocular abnormalities and neuronal vacuolation.

Research Citation(s):

Wiedmer M, Oevermann A, Borer-Germann SE, Gorgas D, Shelton GD, Drögemüller M,Jagannathan V, Henke D, Leeb T. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda). 2015 Nov 23;6(2):255-62. [PubMed: 26596647]

Associated Breed(s):

Alaskan Husky, Mixed Breed,

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