Shen Junhui, Yu Hao, Lin Jijian, Zhang Li, Pan Xiaohong, Chen Zhiqing
Eye Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Department of Neurology and Department of Medical Genetics in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Front Genet. 2022 Sep 15;13:972501. doi: 10.3389/fgene.2022.972501. eCollection 2022.
Hereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene () mutation. We identified that the p.G103R mutation of the gene in a Han Chinese family was associated with vitreous hemorrhage. The proband was a 48-year-old woman who had progressive visual impairment in both eyes for 12 years. A Glass wool-like posterior vitreous cortex attached to the posterior retinal surface of both eyes was found using ocular coherence tomography. Visual acuity improved after the first vitrectomy. Two years later, the patient underwent two more vitrectomies because of vitreous opacity recrudescence. Four years later, she presented with vitreous hemorrhage in the right eye. The vitreous fluids acquired during the vitrectomy showed increased vascular endothelial growth factor, basic fibroblast growth factor, interleukin-6, interleukin-10, vascular cell adhesion molecule, and interleukin-8. Mutation sequencing revealed a heterozygous mutation in nucleotide c.307G > C (p.G103R) in exon 3 of the gene in the proband (IV-13), her daughter (IV-9), and her fourth sister (III-11). To our knowledge, this is the first case of ATTRv amyloidosis caused by a p.G103R mutation of the gene associated with vitreous hemorrhage in China.
遗传性转甲状腺素蛋白（ATTRv）淀粉样变性是一种由转甲状腺素蛋白基因（）突变引起的罕见疾病。我们发现一个汉族家庭中该基因的p.G103R突变与玻璃体积血有关。先证者是一名48岁女性，双眼进行性视力损害12年。使用光学相干断层扫描发现双眼视网膜后表面附着有玻璃丝样的玻璃体后皮质。首次玻璃体切除术后视力改善。两年后，患者因玻璃体混浊复发又接受了两次玻璃体切除术。四年后，她右眼出现玻璃体积血。玻璃体切除术中获取的玻璃体液显示血管内皮生长因子、碱性成纤维细胞生长因子、白细胞介素-6、白细胞介素-10、血管细胞黏附分子和白细胞介素-8增加。突变测序显示先证者（IV-13）、她的女儿（IV-9）和她的四妹（III-11）的该基因第3外显子核苷酸c.307G > C（p.G103R）存在杂合突变。据我们所知，这是中国首例由该基因p.G103R突变引起的与玻璃体积血相关的ATTRv淀粉样变性病例。
