Cataracts cause the lens of a dog’s eye to become opaque and cloudy, leading to sight loss and eventual blindness if untreated. One specific cause is hereditary cataracts linked to mutations in the HSF4 gene, a condition referred to as HC-HSF4. This genetic eye disorder affects several dog breeds and can pass from parents to puppies, making testing essential for breeding decisions.
Hereditary cataracts linked to the HSF4 gene represent a common inherited eye disorder in dogs, causing lens clouding and vision impairment. Various mutations in the HSF4 gene cause different cataract types, often starting between 9 and 15 months of age, progressing up to around four years, potentially resulting in total blindness if left untreated.
Not all cataracts are hereditary; some develop secondary to other eye diseases like glaucoma. When hereditary, the mode of inheritance and severity can vary by breed, making breed-specific knowledge and testing critical.
Several dog breeds have a higher prevalence of HC-HSF4 mutations, particularly:
HC-HSF4 inheritance patterns differ by breed:
Because carriers and affected dogs might not show obvious signs early on, genetic testing is vital for dogs intended for breeding.
Testing involves your vet collecting a DNA sample, usually via a cheek swab or blood sample. The sample is sent to accredited laboratories authorised to perform HC-HSF4 genetic testing. Results indicate whether a dog is clear, a carrier, or at risk/affected.
You can find a list of UK approved laboratories via The Kennel Club’s DNA testing page. Early testing informs breeders and owners, aiding in preventing hereditary cataract propagation.
| Result Category | Description | Implication |
|---|---|---|
| Clear/Normal (N/N) | Two normal gene copies, no mutation present | Not at risk; safe for breeding |
| Carrier/At Risk (N/M) | One normal and one mutated gene copy | In terrier/bulldog types: asymptomatic carriers, can pass mutation; in Australian shepherds: likely to develop cataracts |
| Affected/At Risk (M/M) | Two mutated gene copies | High likelihood of clinical cataracts and vision loss; not recommended for breeding |
Using genetic test results to select breeding pairs free of the HC-HSF4 mutation helps reduce the occurrence of hereditary cataracts. This ethical approach improves long-term breed health and welfare, preventing avoidable blindness in puppies.
Currently, no cure exists for hereditary cataracts; treatment options include surgery to remove cataracts, which can improve vision if performed early. Regular eye checks by your vet are essential for early detection. Genetic testing helps identify at-risk dogs before signs develop, allowing proactive management.
Hereditary cataracts caused by HSF4 mutations present a severe health challenge for several dog breeds. Testing is critical for responsible breeding, early detection, and improved canine welfare. If you own an at-risk breed, ask your vet about HC-HSF4 testing and consider genetic screening before breeding.
For more information, visit The Kennel Club’s DNA testing list.