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Article

Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.

Cornea - 1 Mar 2003

Kono Jean Oscar Kono, Podskarbi Teodor, Shin Yoon, Lanzl Ines

Abstract excerpt

BACKGROUND: Fabry disease is an X-linked genetic disorder involving sphingolipid catabolism, which is caused by lysosomal alpha-galactosidase A deficiency. Ophthalmological findings such as corneal and lens opacities and conjunctival and retinal vessel abnormalities can be the only and/or the first recognizable symptoms, especially in heterozygous females. METHODS: We report on a 34-year-old German woman with...

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PMID: 12605057
DOI: 10.1097/00003226-200303000-00020

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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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