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Article

Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity.

The British journal of ophthalmology - 1 Dec 2010

Allen L E, Cosgrave E M, Kersey J P, Ramaswami U

Abstract excerpt

BACKGROUND/AIMS: Fabry disease is an X linked lysosomal disorder associated with severe multiorgan failure and premature death. This study aims to determine the prevalence of ophthalmic manifestations in children with the condition and investigate the correlation with genotype and systemic disease severity. METHODS: The records of 26 children from 18 pedigrees with Fabry disease undergoing regular ophthalmic and...

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Source

Identifiers

PMID: 20576773
DOI: 10.1136/bjo.2009.176651

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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