Peer-reviewed veterinary case report
Genetic cause of progressive retinal blindness in Labrador retrievers
By Murgiano, Leonardo et al.·Published in Scientific reports·2025·Department of Clinical Sciences, United States·View original on PubMed →
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Original publication title: GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.
- Species:
- dog
Plain-English summary
A litter of three Labrador retrievers was found to have progressive retinal atrophy (PRA), a condition that leads to blindness due to problems with the eye's photoreceptors. Genetic testing revealed a specific deletion in a gene called GTPBP2, which is linked to this type of vision loss. While the affected puppies were blind, their parents and siblings were healthy. The study suggests that this genetic mutation may play a role in the development of PRA in these dogs. Unfortunately, there is currently no treatment to reverse the blindness caused by this condition.
People also search for: Labrador retriever blindness · progressive retinal atrophy in dogs · GTPBP2 gene mutation in dogs
Abstract
Progressive retinal atrophy (PRA), caused by aberrant functioning of rod/cone photoreceptors, leads to blindness affecting mammals, including dogs. We identified a litter of three Labrador retrievers affected by non-syndromic PRA; the parents and three other siblings were unaffected. Homozygosity mapping and whole-genome sequencing detected a homozygous 3-bp deletion in the coding region of GTPBP2, located in CFA12 (NC_049233.1:12,264,348_12,264,350del, c.1606_1608del, p.Ala536del). The variant was absent from the online European Variation Archive (EVA) database, the Dog Biomedical Variants Database Consortium, and the Dog10k database. We tested 91 non-affected dogs from the same kennel and found 75 wild-type (WT) and 16 carriers, all clinically normal, and 569 Labradors from the general population (USA), all WT. GTPBP2 is associated with Jaberi-Elahi syndrome (JES) in Homo sapiens, and splice variants in Mus musculus are associated with neurodegeneration; in both cases photoreceptor degeneration may be included in its manifestation. Heterologous cellular systems were transfected with cDNA encoding WT or A536del mutant GTPBP2 protein and immunoblot analysis of total cell lysate with anti-GTPBP2 antibodies showed that the expression level of the GTPBP2 mutant protein A536del is slightly but not significantly reduced compared to WT. Immunofluorescent methods and confocal analysis of cells transfected with WT or A536del GTPBP2 protein revealed that the WT form is diffuse throughout the cytosol, while the mutant form resulted in the formation of cytoplasmic aggregates in ~70-80% of cells. The deleted amino acid falls within a conserved interval outside the GTP domain of GTPBP2, suggesting a potentially novel role of the sequence on cellular localization of the protein.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/39971978/