Disease overview

Cataracts are an eye condition that involves the lens of the eye. The lens is a transparent structure that allows for focusing of light. With cataracts, the lens is no longer transparent and turns to a milky white due to fiber disorganization. Light is no longer able to reach the retina, which leads to blindness.

Gene name

HSF4

Inheritance

Autosomal recessive

Signs and symptoms

This is an early-onset form of cataracts. Clinical signs present as early as a few weeks of age. Affected dogs will have a cloudy haze in their pupils, which can become progressively worse. Vision loss will be apparent.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

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. doi: 10.1111/j.1463-5224.2006.00496.x. PMID: 16939467.

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. doi: 10.1093/jhered/esm043. Epub 2007 Jul 4. PMID: 17611257.

Mellersh CS, McLaughlin B, Ahonen S, Pettitt L, Lohi H, Barnett KC. Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol. 2009 Nov-Dec;12(6):372-8. doi: 10.1111/j.1463-5224.2009.00735.x. PMID: 19883468.

Barnett KC. Hereditary cataract in the dog. J Small Anim Pract. 1978 Feb;19(2):109-20. doi: 10.1111/j.1748-5827.1978.tb05463.x. PMID: 642468.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.