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Progressive Retinal Atrophy, Early Onset (Spanish Water Dog Type)

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Test Overview:

Early-Onset Progressive Retinal Atrophy (PRA) is a genetically inherited eye disorder affecting dogs, characterised by the gradual deterioration of the retina, eventually leading to blindness. This condition is specifically termed "early-onset" to differentiate it from forms that appear later in a dog’s life. The early-onset form often begins affecting dogs in their youth or early adulthood. The retina, which is the light-sensitive tissue lining the back of the eye, has cells called photoreceptors that convert light into electrical signals. These signals are sent to the brain and interpreted as visual images. In dogs with Early-Onset PRA, these photoreceptor cells begin to degenerate prematurely. Symptoms typically start with night blindness. Affected dogs may show reluctance to go into dark spaces or are more hesitant at night. As the disease progresses, their daytime vision also deteriorates. Unfortunately, there is no current cure for PRA, and the condition leads to complete blindness. Genetic testing can identify dogs that carry genes for PRA, which is crucial for breeders to prevent passing the condition to offspring.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

PDE6B

Variant Detected:

Chr 3: c.2218-2223del p.(F740_F741del)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the PDE6B gene will reliably determine if a dog is a genetic carrier of early-onset progressive retinal Atrophy.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/32639685/ Winkler PA, Ramsey HD, Petersen-Jones SM. A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol. 2020;00:1–5. [PubMed: 32639685]

Associated Breed(s):

Spanish Water Dog,

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