Test Detail
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.
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
- 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/
2. OMIA:002926-9615. Retinal atrophy, progressive, GTPBP2-related in Canis lupus familiaris. https://omia.org/OMIA002926/9615/