Article
Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)
Genes - 16 May 2022
Zhuang Xiaonan, Sun Zhongcui, Gao Fengjuan, Wang Min, Tang Wenyi, Liu Wei, Wang Keyan, Wu Jihong, Jiang Rui, Xu Gezhi
Abstract excerpt
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...
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