Hereditary cataract " "(HSF4) ""for breeds see info

Hereditary cataract (HC)


Cataract means reduced transparency (opacity) of the eye lens that is normally clear. The hereditary cataract (HC) in Australian Shepherds is based on a mutation in the HSF4 gene considered as risk factor. It has been published that dogs carrying the mutation show a 17-fold increased risk to develop cataract compared to dogs free of the mutation. Heterozygous carriers of only one mutated HSF4 gene predominantly suffer from posterior polar subcapsular cataract (PPSC). This form does not necessarily impair vision in the Australian Shepherd breed. However, dogs homozygous affected by the HSF4 mutation show a more severe progress of the disease. The cataract develops in the nuclear region and may lead to complete blindness. The age of onset is not clearly defined. Another genetic variant 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.


Australian Shepherd, Boston Terrier, French Bulldog, Stafforshire Bull Terrier and Wäller

Trait of inheritance

autosomal-recessive - Boston Terrier, French Bulldog, Staffordshire Bull Terrier

autosomal-dominant - Australian Shepherd, Wäller

Test duration

1-2 weeks after arrival of the sample in the lab


The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.

Testing procedure

Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.


Please contact our molecular biology team for further questions.

Steubenstraße 4
D-97688 Bad Kissingen

Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546


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