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Hereditary Cataract (Dominant)

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Test Overview:

Hereditary cataracts affects dogs and is an inherited eye disease. Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. Dogs with this condition will most commonly present within a few weeks to months after birth with small cataracts (that are visible on a veterinary eye exam). Cataracts from this disease will eventually affect the whole lens in both eyes leading to complete blindness between 2-3 years of age. Note: not all forms of cataracts are inherited. Environmental factors like UV damage can also play a part in the severity of the condition.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

HSF4

Variant Detected:

C.971-972 delC

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

Genetic testing of the HSF4 gene will reliably determine if a dog is a genetic carrier of Hereditary cataracts.

Research Citation(s):

Barnett KC. Hereditary cataract in the dog. J Small Anim Pract. 1978 Feb;19(2):109-20. [PubMed: 642468] Mellersh CS, Graves KT, McLaughlin B, Ennis RB, Pettitt L, Vaudin M, Barnett KC. Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier. J Hered. 2007;98(5):531-3. [PubMed: 17611257] Mellersh CS, Pettitt L, Forman OP, Vaudin M, Barnett KC. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol. 2006 Sep-Oct; 9(5):369-78. [PubMed: 16939467]

Associated Breed(s):

Australian Shepherd, Miniature American Shepherd, Miniature Australian Shepherd,

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