Progressive Retinal Atrophy (JPH2 – PRA) – Shih-Tzu
Code: H298
Short description
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.
General information
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This specific variant of the disorder, found in the Shih-Tzu, is caused by a recessive mutation to the gene JPH2.
Specifications
| Breeds | |
|---|---|
| Gene | JPH2 |
| Chromosome | 24 |
| Mutation | c.452T>G |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA |
Clinical features
Onset of clinical signs in affected dogs occurs in later adulthood, between the ages of 5 and 9 years. Symptoms include a hyper-reflective tapetum and loss of vision. Opthalmologic examination may reveal atrophy of the optic nerve and changes to the pigment of the retina.
References
Pubmed ID: 34231238
Year published: 2021
Omia ID: 2943
Omia variant ID:
Turnaround information
- 15 working days