Chen Ling-Yan, Lu Lin, Li Yong-Hao, Zhong Hui, Fang Wang, Zhang Li, Li Weng-Lin
Department of Ophthalmology, Shenzhen Childrens' Hospital, 7019 Yitian Road, Shenzhen 518026, Guangdong Province, China.
Int J Ophthalmol. 2011;4(3):329-31. doi: 10.3980/j.issn.2222-3959.2011.03.26. Epub 2011 Jun 18.
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).
该报告中的两名患者均有飞蚊症且多年来视力进行性下降。三代人中出现了两例家族性玻璃体淀粉样变性，玻璃体中有典型的白色纤维状混浊。对这两名患者实施了玻璃体切除术。对玻璃体标本进行了组织病理学检查。标本经刚果红染色显示出淀粉样变性的典型微观特征，在透射电子显微镜下可见直径为5 - 10纳米的无分支纤维随机分布。用从外周血细胞中分离的DNA扩增转甲状腺素蛋白基因的所有外显子。转甲状腺素蛋白基因的双向测序揭示了一个单碱基对替换，这导致第83位氨基酸发生替换，由甘氨酸变为精氨酸（转甲状腺素蛋白Arg - 83）。
