Primary Hereditary Cataract (PHC Dog)
Primary hereditary cataract (PHC) describes a clouding of the lens with resulting blindness at the age of 2-3 years. First symptoms such as impaired vision appear at the age of 2-4 months.
The disease occurs in the Australian Shepherd. The inheritance is autosomal dominant.
Symptoms
- Impaired vision
- Total blindness
General Information
- Primary hereditary cataract (PHC) describes a clouding of the lens with resulting blindness.
- The first symptoms appear at the age of 2-4 months.
- At the age of 2-3 years there is complete clouding of the lens in both eyes.
Breeds affected
Australian Shepherd
Test Information
This mutation test detects a deletion (g.85286582delC) in the HSF4 gene.
Genotype and Lab Report
Inheritance: autosomal dominant
→ The disease occurs if one or both copies of the gene are affected by the mutation (n/PHC or PHC/PHC).
Genotypes:
n/n = genetically normal
The dog has no predisposition for PHC and therefore cannot pass it on to its offspring.
n/PHC = affected
The causative mutation is passed on 50% to the offspring.
PHC/PHC = affected
The variation is passed on 100% to the offspring.
Recommendations
Affected animals (n/PHC, PHC/PHC) should be excluded from breeding.
Literature
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: Online Mendelian Inheritance in Animals.