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Article

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.

Eye (London, England) - 1 Jan 2014

Liu T, Zhang B, Jin X, Wang W, Lee J, Li J, Yuan H, Cheng X

Abstract excerpt

PURPOSE: To describe the characteristic ophthalmic phenotypes of a large Chinese family with familial amyloid polyneuropathy due to a missense mutation in transthyretin (TTR) (c.307 C>G). METHODS: Twenty-seven individuals (12 affected, 15 unaffected) from a five-generation Chinese family underwent general medical examination and comprehensive ophthalmic examination, including best correct visual acuity,...

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Source

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Identifiers

PMID: 24113303
DOI: 10.1038/eye.2013.217
PMCID: PMC3890754

Genes

TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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