Breeds Affected: Australian Shepherd
Samples Accepted: Blood, Buccal Swabs
Disease Information: PHC is an eye disease with an early-onset, usually between 2 – 4 months of age. Opaque cataracts are usually fully covering both eyes by 2 – 3 years of age, resulting in full blindness.
Inheritance Information: PHC in the Australian Shepherd is autosomal dominant, meaning that animals with just one copy of this allele will be affected. 50% of their offspring will also be affected.
The possible genotypes are for Australian Shepherds are:
n/n The dog is normal, and cannot produce affected offspring.
n/PHC The dog is affected, and 50% of the offspring will be affected.
PHC/PHC The dog is affected with PHC, and 100% of the offspring will also be affected.
– Affected animals (n/PHC, PHC/PHC) should not be used for breeding.
Test Information: A mutation in HSF4 is causative for PHC in Australian Shepherds
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 12:372-8, 2009. Pubmed reference: 19883468. DOI: 10.1111/j.1463-5224.2009.00735.x.
Further information is available at the Online Mendelian Inheritance in Animals website.