Rev Bras Oftalmol.2017;76(6):316-318
Ophthalmologic findings in Gaucher’s disease type III: case report
DOI: 10.5935/0034-7280.20170066
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.
Ophthalmologic findings in Gaucher’s disease type III: case report
Keywords: Case reports; Eye manifestations; Gaucher disease; Glaucoma