Article
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 - 1 Jan 2023
Stanbury Katherine, Stavinohova Renata, Pettitt Louise, Dixon Chris, Schofield Ellen C, Mclaughlin Bryan, Pettinen Inka, Lohi Hannes, Ricketts Sally L, Oliver James A, Mellersh Cathryn S
Abstract excerpt
Multiocular defect has been described in different canine breeds, including the Old English Sheepdog. Affected dogs typically present with multiple and various ocular abnormalities. We carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with hereditary cataracts at the age of five and then referred to a board-certified veterinary ophthalmologist due to owner-reported visual...
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