Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin.
International journal of ophthalmology(2023)
Abstract
FVA may present with various ocular manifestations, but panretinal detachment is a rare occurrence. In cases where retinal detachment persists for an extended period of time, amyloid deposits may form under the retina through retinal tears, leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis. Elevated levels of VEGF in the eyes of FVA patients may indicate an overexpression state, necessitating careful postoperative follow-up. The heterozygous mutation Gly103Arg may represent a unique pathogenic site in Chinese individuals.
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Key words
familial vitreous amyloidosis,transthyretin gene,Gly103Arg,vascular endothelial growth factor
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