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Ophthalmologic findings in Gaucher's disease type III: case report

Abstract

We report a case of a patient with Guacher's disease type III, with mutation in Exon9, 1246G> A and 1251G> C, seeking to investigate the suspected glaucoma, to describe the ophthalmological findings, as glycolipid accumulation in the pre-retinal region and to investigate The possible correlation with the decrease of the layer of nerve fibers.

Keywords:
Gaucher disease; Glaucoma; Eye manifestations; Case reports

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