Case Report: Vitreous Amyloidosis Caused by a TTR Lys55Asn Mutation With Intraoperative Suprachoroidal Hemorrhage

Xu, Qing; Wang, Xinting; Zhang, Zhengpei; Li, Jie; Liu, Haiyang; Ji, Sujuan; Qiao, Lei; Gong, Chaoju; Feng, Ruifang; Li, Suyan

doi:10.3389/fmed.2021.797223

Cited by 1 publication

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The p.K55T and p.L75R mutations of TTR genes have also been reported in Chinese families ( Long et al, 2012 ). Recently, a Chinese study reported that the TTR p.K55N mutation presented with sensorimotor neuropathy and severe autonomic dysfunction four years after the first diagnosis of ocular amyloidosis ( Xu et al, 2021 ). Most patients with p. G103R have only been reported to have ocular symptoms.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage

Shen

Yu²,

Lin³

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

Hereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene (TTR) mutation. We identified that the p.G103R mutation of the TTR 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 TTR 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 TTR gene associated with vitreous hemorrhage in China.

show abstract

Section: Discussionmentioning

confidence: 99%