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Hereditary Cataracts (HC) are defined as the clouding of the lens of the eye.
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Specifiche
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Gene | |
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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Chromosome | |
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Informazioni generali
Hereditary Cataracts (HC) are defined as the clouding of the lens of the eye. Cataracts impair vision and, if progressive, may lead to total blindness because the lens normally focuses light on the retina to enable vision. Cataracts can develop in one eye or in both eyes due to the aging process, underlying diseases, injury or a genetic defect.
In the Boston Terrier and the Staffordshire Bull Terrier, a recessive mutation to the HSF4 gene is associated with HC.
Caratteristiche cliniche
Cataracts may start forming early onset before 1 year of age or late onset after 2 years of age with variable rate of progression and impaired vision.
Informazioni aggiuntive
The late onset form of HC in Boston Terriers is not associated with the HSF4 mutation.
Riferimenti
Pubmed ID: 16939467
Omia ID: 1758