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Hereditary Cataract (HC, HSF4-1) are defined as the clouding of the lens of the eye.
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Specifiche
| Razza | Australian Shepherd – Cane Pastore Australiano, Pastore americano nano (Miniature American Shepherd) |
|---|---|
| Gene | |
| Cromosoma | 5 |
| Mutation | c.971del |
| Tipo di Ereditarietà | Autosomica dominante a penetranza incompleta |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | PHC |
Informazioni generali
Hereditary Cataract (HC,
HSF4-1) 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.
Caratteristiche cliniche
La cataratta può iniziare a formarsi dopo i 2 anni di età con tasso variabile di progressione e visione compromessa.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 16939467
Year published: 2006
Omia ID: 1758
Omia variant ID: