Progressive Retinal Atrophy (crd2-PRA) – American Pit Bull Terrier
Kodas: H358
Short description
Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs.
General information
Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs. This variant of the disorder, Cone-Rod Dystrophy, Type 2 (crd2, or crd2-PRA) is found in the American Pit Bull Terrier. It is caused by a recessive mutation to the gene IQCB1. A similar variant of the disease, called crd1, occurs in the American Staffordshire Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | IQCB1 |
| Chromosome | 33 |
| Mutation | c.952_53insC |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | crd2; crd2-PRA |
Clinical features
Affected dogs have progressively degenerating retinas, which grow thinner and more “ragged” within the first few months after birth. They will display severe vision impairment in both well-lit and dimly-lit conditions, which can progress to more severe blindness within the first year of age.
References
Pubmed ID: 24045995
Year published: 2013
Omia ID: 1675
Omia variant ID:
Turnaround information
- 10 working days