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Multiocular Defect (MOD) is a hereditary ocular syndrome characterized by a variety of abnormalities, often affecting multiple parts of the eye.
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Especificaciones
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | Autosómico dominante |
| Chromosome | 6 |
| Also known as | MOD |
| Mutation | c.1775T>C |
Información específica de la prueba
Multiocular Defect (MOD) is a hereditary ocular syndrome characterized by a variety of abnormalities, often affecting multiple parts of the eye. This condition is an autosomal dominant trait caused by a mutation in the COL11A1 gene, which is associated with the production of type XI collagen.
This MOD mutation has been observed in the Old English Sheepdog.
Características clínicas
Affected dogs typically develop cataract, which progress to blindness over time. Other clinical signs may include, microphakia (small lens), macrophthalmia (enlarged globe), lens coloboma (parts of the lens are missing), retinal folds and detachment, vitreous degeneration (vitreopathy), persistent pupillary membranes, retinal degeneration and secondary glaucoma. The onset and severity of the disease can vary. Heterozygous dogs may have fewer clinical signs and/or a later onset of the disease compared to homozygous dogs. Diagnosis is generally made between 0.5 to 10 years of age, with most cases diagnosed around 2 years of age.
Información adicional
Referencias
Pubmed ID: 38153936
Year published: 2023
Omia ID: 2811
Omia variant ID: