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Early-Onset Progressive Retinal Atrophy

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Test Overview:

Progressive retinal Atrophy, early onset (Portuguese Water Dog Type) is an early-onset eye disease affecting dogs. Affected dogs may present with vision problems between 2-3 years of age. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the Retina called the Tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, which may progress to complete blindness.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CCDC66

Variant Detected:

chr20:33966929-33966930 (canFam4): -/T

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

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/33273526/

Associated Breed(s):

Portuguese Water Dog,

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