Literature DB >> 1200092

Ocular manifestations of Gaucher's disease.

M Petrohelos, D Tricoulis, I Kotsiras, A Vouzoukos.   

Abstract

A 27-year-old woman not only had the usual clinical and laboratory features of the adult form of Gaucher's disease but also had typical pingueculae and a peculiar lesion with a pigmented temporal edge in the fundus of her left eye. Bone-marrow aspiration demonstrated infiltration by Gaucher's cells and a biopsy of the conjuctival masses disclosed areas of infiltration by Gaucher's cell beneath normal epithelium.

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Year:  1975        PMID: 1200092     DOI: 10.1016/0002-9394(75)90329-3

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  7 in total

1.  Progression of retinal changes in Gaucher disease: a case report.

Authors:  R G Coussa; J C P Roos; M Aroichane; M-C Miron; L H Ospina
Journal:  Eye (Lond)       Date:  2013-08-23       Impact factor: 3.775

Review 2.  Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders.

Authors:  Hui Chen; Annie Y Chan; Donald U Stone; Nawajes A Mandal
Journal:  Surv Ophthalmol       Date:  2013-09-05       Impact factor: 6.048

3.  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

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

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

5.  Neurological involvement in type 1 (adult) Gaucher's disease.

Authors:  R O McKeran; P Bradbury; D Taylor; G Stern
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-02       Impact factor: 10.154

6.  Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.

Authors:  Chun-An Chen; Nelson L S Tang; Yin-Hsiu Chien; Wei-Min Zhang; Jou-Kou Wang; Wuh-Liang Hwu
Journal:  BMC Med Genet       Date:  2005-06-09       Impact factor: 2.103

Review 7.  A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Authors:  Jérôme Stirnemann; Nadia Belmatoug; Fabrice Camou; Christine Serratrice; Roseline Froissart; Catherine Caillaud; Thierry Levade; Leonardo Astudillo; Jacques Serratrice; Anaïs Brassier; Christian Rose; Thierry Billette de Villemeur; Marc G Berger
Journal:  Int J Mol Sci       Date:  2017-02-17       Impact factor: 5.923

  7 in total

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