DNA test - HC-HSF4 (Hereditary cataracts)

Details about the disease

A cataract is an “opacity”, or loss of transparency of the lens of the eye. The opacity may be confined to a small area of the lens, or it may affect the whole structure. A complete cataract affecting both eyes will result in blindness, whereas small non-progressive cataracts will not interfere with vision. Primary cataracts occur in some breeds; in other breeds the cataract may develop secondarily to another inherited disorder such as progressive retinal atrophy or glaucoma.

Clinical signs

Obvious cataracts occur between 9 and 15 months of age with further progression and maturity of the cataract between 2-4 years. This is a blinding condition if left untreated.

How is it inherited?

A number of breeds are known to suffer from HC and there are almost certainly different genetic causes for a number of these. Mutations in one gene called HSF4, has been shown to cause HC in a number of different breeds (Australian Shepherd, Boston Terrier, French Bulldog and Staffordshire Bull Terrier). One of the HSF4 mutations causes bilateral cataracts, in Staffordshire Bull Terriers, Boston Terriers and French Bulldogs, that can be diagnosed as early as 8-12 weeks of age, but are not congenital.

In these breeds the mutation in HSF4 is an autosomal-recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

A slightly different mutation in the same gene has been identified as a risk factor for bilateral posterior polar subcapsular cataracts in the Australian Shepherd. This form of cataract has quite a variable age of onset and in this breed, the HSF4 mutation appears to behave as an autosomal-dominant condition. This means that a dog must inherit only one copy of an abnormal gene (one from its mother or one from its father) before its health may be affected.

Which laboratories test for this condition?

Two lists of laboratories that test for HC-HSF4 can be found below.

Laboratories that send a copy of your dog's results straight to The Kennel Club, so you don't have to.
Laboratories Contact details

Kennel Club CombiBreed (UK)

Available as part of an all-on one health test package for:

  • Australian Shepherds
  • French Bulldog
  • Staffordshire Bull Terrier
Read more about CombiBreed
AHT (UK) The AHT closed down on 31 July and no longer offers this test.
Animal DNA Diagnostics (UK) Phone: 01223 395577
Email: Animal DNA Diagnostics
Web: www.animaldnadiagnostics.co.uk
Animal Genetics (UK) Phone: 01726 247788
Email: Animal Genetics
Web: www.animalgenetics.eu
Laboklin (UK) Phone: 0161 282 3066
Email: Laboklin Veterinary Diagnostic Laboratory
Web: www.laboklin.co.uk
Pet Genetics Lab (UK) Phone: 0330 057 7691
Email: Pet Genetics Lab
Web: www.petgeneticslab.co.uk  
Pinmoore Animal Lab Services (UK) Phone: 01829 781855
Email: Pinmoore Animal Lab Services
Web: www.palsvetlab.co.uk

Where will your dog's results be published?

DNA test results from these laboratories are sent directly to The Kennel Club and are recorded on to the dog's record in the registration database, and are published:

Laboratories that do not send a copy of your dog's results to The Kennel Club. You'll need to do this yourself.
Laboratories Contact details
Antagene (France)
Only available for the following breeds:
  • Australian shepherd
  • Boston terrier
  • Staffordshire bullterrier
Email: Anta gene
Web: www.antagene.com/en
Genetic Technologies (Australia) Web: www.animalnetwork.com.au
Genindexe (France) Email: Genin dexe
Web: www.genindexe.com
Genomia (Czech Republic) Email: Genomia Genetic Laboratory
Web: www.genomia.cz
MyDogDNA (Finland)
For Australian Shepherds only.
Email: My Dog DNA
Web: www.mydogdna.com
Orthopedic Foundation for Animals (USA)
Staffordshire Bull Terriers only
Email: Orthopedic Foundation for Animals
Web: www.ofa.org
Paw Print Genetics (USA) Email: Paw Print Genetics
Web: www.pawprintgenetics.com
Van Haeringen (Holland)
Only available for the following breeds:
  • Australian shepherd
  • Boston terrier
  • Staffordshire Bull Terrier
Email: Van Haeringen Genetics
Web: www.vhlgenetics.com
VetGen (USA)


Vet Gen
Web: www.vetgen.com


How to submit DNA test results to The Kennel Club

The laboratories listed above do not send your dog's DNA test results to The Kennel Club. To have these results placed on your dog's record please submit them yourself by scanning and emailing them to our health results team.

What we require on the results certificate

Please note that we require at least two forms of identification on the result certificate. These must include the dog's microchip or tattoo number along with either the dog's registered name or registered number. Results without these details cannot be accepted by us.

Where will your dog's results be published once you have submitted them?

DNA test results received by The Kennel Club are recorded on to the dog's record in the registration database, and are published:

Breeding advice and what your dog's results mean

If, once your dog is DNA tested, you would like to find out what their DNA test results mean, or how to select the right mate to avoid producing affected puppies, then please read our breeding advice and DNA testing information.

For Australian Shepherds, the way that this condition is inherited slightly differently, so please see our read our breeding advice for autosomal-dominant conditions for this breed.

How to find out if a potential mate has been DNA tested

The Kennel Club’s Health Test Results Finder allows you to find the results of DNA tests carried out as part of The Kennel Club's official DNA testing schemes for any dog on The Kennel Club’s Breed Register.