Hereditary Cataract (HC, HSF4-1)
Kodas: H809
Short description
Hereditary Cataract (HC, HSF4-1) are defined as the clouding of the lens of the eye.
General information
Hereditary Cataract (HC, HSF4-1) are defined as the clouding of the lens of the eye. Cataracts impair vision and, if progressive, may lead to total blindness because the lens normally focuses light on the retina to enable vision. Cataracts can develop in one eye or in both eyes due to the aging process, underlying diseases, injury or a genetic defect.
In the Australian Shepherd, an autosomal dominant mutation with incomplete penetrance to the HSF4 gene is associated with HC. This variant is known as HSF4-1.
Specifications
| Breeds | |
|---|---|
| Gene | HSF4 |
| Chromosome | 5 |
| Mutation | c.971del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant with Incomplete Penetrance |
| Also known as | PHC |
Clinical features
Cataracts may start forming after 2 years of age with variable rate of progression and impaired vision.
References
Pubmed ID: 16939467
Year published: 2006
Omia ID: 1758
Omia variant ID:
Turnaround information
- 10 working days