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pubmed:abstractText |
Fabry disease (FD) is an X-linked, inherited disorder caused by a deficiency of the enzyme alpha-galactosidase A, with progressive accumulation of glycosphingolipids within several tissues and organs, including the eye. Ophthalmological manifestations include conjunctival vessel tortuosity, cornea verticillata, lens opacity, and retinochoroidal vessel abnormalities.
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