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Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation

Description

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).

Recommended Breeding

Diseases

Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation

$60.00

Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Severity:

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

Gene:

RAB3GAP1

Variant Detected:

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

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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