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Primary Hereditary Cataract (PHC)

General

Disease Name
Primary Hereditary Cataract (PHC)
Gene Name 2
HSF4-2
Mutation
g.85286582delC
Mutation 2
g.85286582_3insC
Test Type
Genetic Disease/Disorder
Details
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Details 2
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Published
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.

Breed Specific Info

Breed-specific 1
Australian Shepherd, Boston Terrier, Staffordshire Bull Terrier
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