title: Transthyretin Arg-83 mutation in vitreous amyloidosis.
abstract: Both of the patients in the report had floaters and progressive vision loss for years. Two cases of familial vitreous amyloidosis occurred in three generations with typical white fibrilar opacities in the vitreous body. Pars plana vitrectomy was performed in the two patients. The vitreous specimens were subjected to histopathological examination. The specimens showed typical microscopic features of amyloidosis with Congo red stain and non-branching fibrils were seen randomly distributed with 5-10nm in diameter on a transmission electron microscope. All of the exons of the transthyretin gene were amplified with DNA isolated from the peripheral blood cells. Bi-directional sequencing of the transthyretin gene revealed a single base-pair substitution, which results in an amino acid substitution at position83, glycine to arginine (transthyretin Arg-83).
authors.affiliation: Department of Ophthalmology, Shenzhen Childrens' Hospital, 7019 Yitian Road, Shenzhen 518026, Guangdong Province, China.
authors.forename: Ling-Yan
authors.initials: LY
authors.lastname: Chen
authors.forename: Lin
authors.initials: L
authors.lastname: Lu
authors.forename: Yong-Hao
authors.initials: YH
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Zhong
authors.forename: Wang
authors.initials: W
authors.lastname: Fang
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Weng-Lin
authors.initials: WL
authors.lastname: Li