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Stickler Syndrome Type II (Old English Sheepdog Type)

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Test Overview:

Stickler Syndrome is a disease that affects dogs and causes eye defects. Characteristics of this disease can include cataracts, changes in eye lens shape, retinal detachment, bilateral vitreous degeneration, abnormal eye enlargements and inflammatory deposits in the eye.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

COL11A1

Variant Detected:

c.1775T>C

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Stickler Syndrome.

Research Citation(s):

Stanbury, K., Stavinohova, R., Pettitt, L., Dixon, C., Schofield, E.C., Mclaughlin, B., Pettinen, I., Lohi, H., Ricketts, S.L., Oliver, J.A., Mellersh, C.S. : Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1. PLoS One 18:e0295851, 2023. Pubmed reference: 38153936

Associated Breed(s):

Old English Sheepdog ,

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