Stargardt disease 1
Kodas: H907
Short description
Stargardt Disease (STGD) is an eye disorder that causes degeneration of the retina, leading to vision loss.
General information
Stargardt Disease (STGD) is an eye disorder that causes degeneration of the retina, leading to vision loss. This variant of the disorder, Stargardt Disease 1, occurs in the Labrador Retriever, and is caused by a recessive mutation to the gene ABCA4.
Specifications
| Breeds | |
|---|---|
| Gene | ABCA4 |
| Chromosome | 6 |
| Mutation | c.4176dup |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | STGD 1 |
Clinical features
Affected dogs develop a degree of vision loss under both brightly and dimly lit conditions, as well as displaying dilated pupils in bright light. Ophthalmological examination will reveal abnormalities such as a hyporeflective retina and vascular attenuation.
References
Pubmed ID: 30889179
Year published: 2019
Omia ID: 2179
Omia variant ID:
Turnaround information
- 10 working days