Hereditäre Katarakt (HSF4) – Boston Terrier, Französische Bulldogge, Staffordshire Bull Terrier
Hereditary cataract (HSF4)
General description
Cataract means reduced transparency (opacity) of the eye lens that is normally clear. The cataract develops in the nuclear region and may lead to complete blindness.
Breeds
Boston Terrier, French Bulldog, Staffordshire Bull Terrier
Order details
| Test number | 8576 |
| Abbreviation | HSF4 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | HSF4 |
| Mutation | INS |
| Literature | OMIA:001758-9615 |
Detailed description
Cataract means reduced transparency (opacity) of the eye lens that is normally clear. The hereditary cataract (HC) in Australian Shepherds is based on a variant in the HSF4 gene considered as risk factor. It has been published that dogs carrying the variant show a 17-fold increased risk to develop cataract compared to dogs free of the variant. Another genetic variant in the same gene is responsible for cataract in French Bulldog, Staffordshire Bull Terriers and the early-onset form of cataract in Boston Terriers. In these breeds the disease is inherited as an autosomal recessive trait.
