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Article

Fabry disease: a review of ophthalmic and systemic manifestations.

Optometry and vision science : official publication of the American Academy of Optometry - 1 Feb 2013

Sivley Melanie D

Abstract excerpt

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by accumulation of Gb-3 (globotriaosylceramide) in cellular lysosomes of tissues throughout the body. With advancing age, lysosomal Gb-3 accumulates in blood vessel walls, nerve cells, smooth muscle, and vital organs. Premature death commonly results from renal failure, heart attack, and stroke when the diagnosis is delayed or overlooked. One of...

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Identifiers

PMID: 23334311
DOI: 10.1097/OPX.0b013e31827ec7eb

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

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