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Primary Hereditary Cataract (PHC)
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Primary Hereditary Cataract (PHC)
OMIA
1758
Gene Name
HSF4-1
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.
Patents/ Licences
Patent: Animal Health Trust. License: OptiGen - US. Test Discovery: Animal Health Trust (Publication: 1). (please note that patent and licensing laws and coverage vary by country)
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.
Published 2
Bellumori, T.P., Famula, T.R., Bannasch, D.L., Belanger, J.M., Oberbauer, A.M. : Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013. Pubmed reference: 23683021. DOI: 10.2460/javma.242.11.1549.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Staffordshire Bull Terriers, Boston Terriers and French Bulldogs, Australian Shepherds, Miniature American Shepherds
Breed-specific 1
Australian Shepherd, Boston Terrier, Staffordshire Bull Terrier
Breed-specific 1 Details
Original publication (Mellersh et al., 2006) demonstrated a strong association between mutations and disease in SBTs (insertion) and a small number of Boston Terriers and Australian Shepherds (deletion). Abberrant splicing demonstrated. Subsequent publications (Mellersh et al., 2007; Mellersh et al., 2009) demonstrated strong association between insertion and EHC in Boston Terriers and deletion and HC in Australian Shepherds.
Breed-specific 2
French Bulldog
Breed-specific 2 Details
Unpublished. AHT has unpublished data indicating at least one dog of this breed is homozygous for this mutation and is affected with the associated disease, which they would be willing to share with an expert panel.
Breed-specific 3
American Shepherd
Breed-specific details 3
Unpublished.
