Literature DB >> 10928672

Macular changes in type I Gaucher's disease.

G Rosenthal1, G Wollstein, I Klemperer, R Yagev, T Lfshitz.   

Abstract

The authors illustrate the spectrum of Gaucher's disease involving the eye in the case of a 51-year-old man suffering from Type I Gaucher's disease who presented with unusual macular changes. This is the first report of chronic adult non-neuronopathic disease (Type I) with a plaque-like mass at the fovea. Our hypothesis is that the lesion at the fovea is probably an aggregation of Gaucher's cells.

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Year:  2000        PMID: 10928672

Source DB:  PubMed          Journal:  Ophthalmic Surg Lasers        ISSN: 1082-3069


  3 in total

1.  A branch retinal artery occlusion in a patient with Gaucher disease.

Authors:  Alice Bruscolini; Maria Pia Pirraglia; Lucia Restivo; Giovanni Spinucci; Alessandro Abbouda
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2011-08-02       Impact factor: 3.117

2.  Photo Essay: Retinal Changes in Type 3 Gaucher Disease.

Authors:  Shweta Anand; Desmond Kidd; Derralynn Hughes
Journal:  Neuroophthalmology       Date:  2018-02-05

3.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

  3 in total

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