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Generalised PRA 1 (Golden Retriever Type)

Description

Genetic basis - GR-PRA1 is caused by a mutation in the SLC4A3 gene, which is involved in retinal function. The mutation follows an autosomal recessive inheritance pattern requiring two copies of the mutated gene for disease expression. Dogs with one copy of the mutation are carriers without symptoms but can pass the gene to offspring.

Pathophysiology - The disease causes progressive degeneration of retinal photoreceptor cells (rods and cones). Early vision loss begins with rods affecting night vision, followed by cones causing loss of day and color vision. Over time, degeneration leads to destruction of the entire retina. Symptoms typically emerge around 6 years of age, leading gradually to complete blindness.

Complications - Animals develop night blindness first, progressing to total vision loss. Loss of vision affects quality of life and requires adaptations in care. No cure currently exists; management focuses on supportive care. Blindness is irreversible once advanced retinal degeneration occurs.

Why This Matters to Breeders and Vets - For breeders, identifying carriers and affected dogs prevents producing blind puppies, improving welfare and breed health. Early knowledge allows breeders to plan matings strategically to maintain healthy, sighted populations while preserving genetic diversity. Veterinarians benefit from understanding disease progression to provide better diagnosis, prognosis, and management recommendations for affected dogs. Awareness of autosomal recessive inheritance educates owners and breeders on risks and prevention strategies.

Recommended Breeding

Diseases

Generalised PRA 1 (Golden Retriever Type)

$ 50.00

Associated Breed(s):

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Labels:

Likely pathogenic (LP)

A healthcare provider can use the molecular testing information in clinical decision‑making when combined with other evidence of the disease in question, 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:

Solute carrier family 4 member 3 (SLC4A3) on chromosome 37

Variant Detected:

C.2601-2602 Insertion C p.Glu868Arg-frameshiftX104

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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