Progressive Retinal Atrophy (GTPBP2-PRA)
Kodas: H144
Short description
Progressive Retinal Atrophy (PRA) is a large group of hereditary eye diseases that cause loss of vision in various breeds of dogs.
General information
Progressive Retinal Atrophy (PRA) is a large group of hereditary eye diseases that cause loss of vision in various breeds of dogs. Vision loss is caused by gradually degeneration of cells in the retina over time, causing a progressive loss of vision. This variant of PRA affects Labrador Retrievers and is caused by an autosomal recessive mutation in the GTPBP2 gene. Mutations in this gene are associated with Jaberi-Elahi syndrome (JES), a neurodevelopmental disorder, in humans and with neurodegeneration in mice.
Specifications
| Breeds | |
|---|---|
| Gene | GTPBP2 |
| Chromosome | 12 |
| Mutation | c.1607_1609del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA |
Clinical features
Dogs affected by GTPBP2-related PRA develop progressive vision loss, which can include difficulty tracking moving objects and eventually blindness. In some affected Labradors, clinical signs were observed between about 11 months and 1.5 years of age. In addition, some affected dogs might start to more heavily rely on other senses, such as smell.
References
Pubmed ID: 39971978
Year published: 2025
Omia ID: 2926
Omia variant ID:
Turnaround information
- 10 working days