Long Da, Zeng Jun, Wu Ling Qian, Tang Luo Sheng, Wang Hui Ling, Wang Hao
Department of Ophthalmology, The 2nd Xiangya Hospital of Central South University, Changsha, China.
Ophthalmic Genet. 2012 Mar;33(1):28-33. doi: 10.3109/13816810.2011.599356. Epub 2011 Aug 15.
To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation.
Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and a clinical examination was obtained on the index patient.
Vitreous amyloidosis and radiculopathy were the significant findings in affected individuals. Vitrectomy was performed on the severely affected individuals, with resulting postoperative visual acuity of 20/80 to 20/25. Congo red staining demonstrated amyloid in the vitreous specimen. In Case A, DNA sequencing of exon 2 in the TTR gene revealed a base-pair substitution at codon 35, AAG > ACG (Lys35Thr). In Case B, a missense mutation of leucine-to-arginine substitution was identified at amino acid position 55 in exon 3, CTG > CGG (Leu55Arg).
TTR Lys35Thr and Leu55Arg mutations are associated with vitreous amyloidosis. The phenotype is variable, with vitreous opacities occurring earlier, and sometimes as the sole signs of amyloidotic polyneuropathies (FAPs). Vitrectomy improves vision in some patients with vitreous amyloidosis.
描述两个患有玻璃体淀粉样变性及相关转甲状腺素蛋白突变的中国大陆大家族的临床和病理特征。
确定了来自两个患有玻璃体淀粉样变性家族的20名个体。分析了每个个体的转甲状腺素蛋白（TTR）基因，并对索引患者进行了临床检查。
玻璃体淀粉样变性和神经根病是受影响个体的显著特征。对病情严重的个体进行了玻璃体切除术，术后视力为20/80至20/25。刚果红染色显示玻璃体标本中有淀粉样物质。在病例A中，TTR基因第2外显子的DNA测序显示密码子35处有一个碱基对替换，AAG > ACG（Lys35Thr）。在病例B中，在第3外显子的氨基酸位置55处鉴定出一个由亮氨酸到精氨酸替换的错义突变，CTG > CGG（Leu55Arg）。
TTR Lys35Thr和Leu55Arg突变与玻璃体淀粉样变性有关。其表型具有变异性，玻璃体混浊出现较早，有时是淀粉样多神经病（FAPs）的唯一体征。玻璃体切除术可改善一些玻璃体淀粉样变性患者的视力。
