玻璃体淀粉样变性是一种罕见的眼病, 可独立发病, 也可以表现为系统性淀粉样变性的眼部受累, 常有家族史。报道 1 例遗传性玻璃体淀粉样变性患者, 中年发病, 双眼先后受累,有明确的家族史。双眼均行玻璃体切除术。术后病理检查结果显示: 玻璃体呈刚果红染色阳性, 电镜下发现纤维丝状物。对患者外周血进行 DNA 抽提, PCR 扩增, 克隆、筛选及测序等一系列基因检测, 发现转甲蛋白(Transthyretin, TTR) 存在着基因突变, 突变点 Gly83Arg, 这可能是玻璃体淀粉样变性发病的一个新的突变位点。

Vitreous amyloidosis is a rare condition that mainly occurs in Familial Amyloidotic Polyneuropathy (FAP). In some cases, it may be the only symptom without systemic disorders. One case of familial vitreous amyloidosis was reported here, with white, wispy opacities in vitreous cavity in both eyes. Pars plana vitrectomy and histopathological examination of the vitreous specimens were performed. The vitreous specimens showed typical microscopic features of amyloidosis with Congo red stain and non-branching fibrils on a transmission electron microscope. Transthyretin (TTR) gene was amplified with DNA isolated from the peripheral blood cells. Bi-directional sequencing of exon 3 showed a single base-pair substitution, which results in an amino acid substitution at position83, glycine to arginine (TTR Arg-83) . TTR Arg-83 may be a new pathologic mutation in vitreous amyloidosis.