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Article

Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?

European journal of ophthalmology - 1 Nov 2021

Prencipe Matteo, Posarelli Chiara, Figus Michele, Gabbriellini Giovanna

Abstract excerpt

INTRODUCTION: To describe the ocular manifestations and in vivo confocal microscopic findings in a patient carrying the recently described hemizygous G171S GLA gene mutation. CASE DESCRIPTION: A 63-year-old Albanian male patient was evaluated for cataract surgery. Anamnesis showed pacemaker implantation in left ventricular hypertrophy, chronic kidney disease, family history for kidney transplantation, and late...

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PMID: 32586128
DOI: 10.1177/1120672120939496

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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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