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FEVR and Loeys-Deitz Syndrome - TGFBR gene defect
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15 year old boy with Loeys-Deitz Syndrome. And TGFBR gene positivity. At age 11 he had aortic root surgery. VA 20/25 OU. Anterior segment normal. Retina shows findings consistent with mild familial exudative vitreoretinopathy
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