Progressive Retinal Atrophy (CNGA1-PRA) – Shetland Sheepdog
Kodas: H390
Short description
Progressive Retinal Atrophy (PRA) refers to large group of genetic disorders that cause gradual degeneration of the retina, leading to progressive vision loss.
General information
Progressive Retinal Atrophy (PRA) refers to large group of genetic disorders that cause gradual degeneration of the retina, leading to progressive vision loss. This variant of PRA is specific for the Shetland Sheepdog and is caused by a recessive mutation in the cyclic nucleotide gated channel alpha 1 (CNGA1) gene.
Specifications
| Breeds | |
|---|---|
| Gene | CNGA1 |
| Chromosome | 13 |
| Mutation | c.1752_1755delAACT |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA; PRA2 |
Clinical features
Clinical signs typically begin with night blindness and reduced peripheral vision, which worsen over time and may lead to complete blindness. The age of onset can vary widely. In one study, affected dogs were diagnosed between 2 and 11 years of age, with an average onset around 5 years.
Additional information
PRA is not the only inherited eye condition seen in Shetland Sheepdogs. Collie Eye Anomaly (CEA) is another retinal disorder known to occur in the breed.
References
Pubmed ID: 26202106
Year published: 2015
Omia ID: 1977
Omia variant ID:
Turnaround information
- 10 working days