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Hereditary Cataracts (HC) are defined as the clouding of the lens of the eye.
10 días laborables
Especificaciones
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specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
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Chromosome | |
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Información específica de la prueba
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 Australian Shepherd, an autosomal dominant mutation with incomplete penetrance to the HSF4 gene is associated with HC. This variant is known as HSF4-1.
Características clínicas
Las cataratas pueden comenzar a formarse después de los 2 años de edad con una tasa variable de progresión y deterioro de la visión.
Información adicional
Referencias
Pubmed ID: 16939467
Omia ID: 1758