Fabry disease - importance of screening in cornea verticillata: case report

Yonamine, Fábio; Arantes, Tiago Eugênio Faria e; Muccioli, Cristina

doi:10.1590/s0004-27492011000600014

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“…But after then, enzyme replacement therapy was provided and with this treatment symptomatic control was succeeded, and complication rate decreased. At the present time, suggestion is that the sooner the enzyme replacement therapy begins, the better results are achieved 3, 6. Herein, we present a 69 years old male who was unaware of his disease up to this age.…”

Section: Discussionmentioning

confidence: 91%

A novel mutation and in vivo confocal microscopic findings in Fabry disease

Değirmenci

Yılmaz

Önay

et al. 2017

Saudi Journal of Ophthalmology

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Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.

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Section: Discussionmentioning

confidence: 91%