Hereditary Cataract (HC, HSF4-2)
Kodas: H699
Short description
Hereditary Cataracts (HC) are defined as the clouding of the lens of the eye.
General information
Hereditary Cataracts (HC) 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 Boston Terrier, the Staffordshire Bull Terrier and French bulldog, an autosomal recessive mutation to the HSF4 gene is associated with HC. This variant is known as HSF4-2.
Specifications
| Breeds | |
|---|---|
| Gene | HSF4 |
| Chromosome | 5 |
| Mutation | c.971_972insC |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PHC |
Clinical features
Cataracts may start forming early onset before 1 year of age or late onset after 2 years of age with variable rate of progression and impaired vision.
Additional information
The late onset form of HC in Boston Terriers is not associated with the HSF4 mutation.
References
Pubmed ID: 16939467
Year published: 2006
Omia ID: 1758
Omia variant ID:
Turnaround information
- 10 working days