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Article

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jan 2015

Beirão João Melo, Malheiro Jorge, Lemos Carolina, Beirão Idalina, Costa Paulo, Torres Paulo

Abstract excerpt

PURPOSE: Assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (FAP) in a large cohort of Portuguese patients. METHODS: We reviewed the medical records of 513 Portuguese FAP mutation carriers, at the Ophthalmology Service, Centro Hospitalar do Porto, between 1 January 2008 and 31 January 2013. Abnormal conjunctiva vessels (ACV), Schirmer test, tear break-up time...

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Identifiers

PMID: 26096568
DOI: 10.3109/13506129.2015.1015678
PMCID: PMC4673564

Genes

FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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