Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)

Genes

Rui Jiang¹  Zhongcui Sun¹  Min Wang¹  Keyan Wang¹  Fengjuan Gao¹  Wenyi Tang¹  Xiaonan Zhuang¹  Wei Liu¹  Jihong Wu¹  Gezhi Xu¹ 

[1] Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China;

关键词: transthyretin;    amyloid;    arteriovenous passage time;    multifocal electroretinography;    internal limiting membrane;    transforming growth factor-β1;   

DOI  :  10.3390/genes13050886

来源: DOAJ

【 摘 要 】

Familial amyloid polyneuropathy (FAP) caused by a genetic mutation in transthyretin (TTR) is an autosomal dominant hereditary disease. The retrospective, observational case series study presents the ocular clinicopathological findings of five cases carrying the TTR mutation c.401A>G (p.Tyr134Cys). Multimodal retinal imaging and electrophysiological examination, Congo red staining and immunohistochemical analysis of specimens, and genetic analyses were performed. Cases 1 and 2 were symptomatic with vitreous and retinal amyloid deposition and poor visual recovery. Case 3 had a symptomatic vitreous haze in the left eye with good postoperative visual recovery. The right eye of case 3 and the eyes of cases 4 and 5 were asymptomatic. Thicker retinal nerve fiber layer, retinal venous tortuosity with prolonged arteriovenous passage time on fluorescein angiography and retinal dysfunction detected by multifocal electroretinogram occurred even in asymptomatic eyes. Moreover, the internal limiting membrane from patients with FAP was stained positive for Congo red and transforming growth factor-β1. The results highlight the amyloid deposition of mutant TTR in the optic disc and retina, even in the asymptomatic stage. The deposited amyloid leads to increased resistance to venous return and retinal functional abnormalities. Therefore, careful follow-up of structural and functional changes in the retina is needed, even in asymptomatic patients with FAP.

【 授权许可】

Unknown