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Hereditary Cataracts (HC) are defined as the clouding of the lens of the eye.
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Spezifikationen
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Gene | |
Organ | |
specimen | Tupfer, EDTA Blut, Heparin Blut, Sperma, Gewebe |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Allgemeine Informationen
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, a recessive mutation to the HSF4 gene is associated with HC.
Klinische Merkmale
Cataracts may start forming after 2 years of age with variable rate of progression and impaired vision.
Zusätzliche Information
Verweise
Pubmed ID: 16939467
Omia ID: 1758