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GTPBP2 progressive retinal atrophy - Labrador retriever

Ocular · Dog

A form of progressive retinal atrophy of the Labrador retriever caused by an in-frame deletion in the GTPBP2 gene. It produces progressive degeneration of photoreceptors and gradual painless vision loss, and is distinguished from PRCD-PRA in the same breed by its molecular basis. It progresses to blindness.
Inheritance patternAutosomal recessive (OMIA:002926-9615).
Gene / MutationGTPBP2 (chromosome 12): 3-bp in-frame deletion c.1606_1608del (p.Ala536del); OMIA:002926 also records the notation c.1607_1609del on an updated transcript.
PenetranceHomozygotes develop the disease; heterozygotes are asymptomatic carriers.
Codegtpb
Turnaround time7 days
Price40,17 €

Incidence

Specific to the Labrador retriever. The PRCD form remains the most frequent PRA in the breed; data on the GTPBP2 variant are limited (one affected litter; 16/91 carriers in unaffected dogs from the kennel and 0/569 in the general population).

Breeder management

- Test breeding dogs for GTPBP2 and PRCD before mating
- Do not cross two carriers of the same mutation
- A carrier may be crossed with an individual free of the same mutation
- Record the status for both PRAs when planning matings

Specialist notes

In the Labrador it is advisable to distinguish PRCD-PRA from GTPBP2-PRA and from other retinopathies. Fundoscopy and electroretinography guide the diagnosis. Adult-young onset. There is no curative treatment.

References

1. Murgiano L, et al. GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy. Sci Rep. 2025;15(1):6079. PMID: 39971978
2. OMIA:002926-9615. Retinal atrophy, progressive, GTPBP2-related in Canis lupus familiaris. https://omia.org/OMIA002926/9615/

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