Literature DB >> 30524494

Photo Essay: Retinal Changes in Type 3 Gaucher Disease.

Shweta Anand1, Desmond Kidd2, Derralynn Hughes3.   

Abstract

Ocular features of Gaucher disease include gaze abnormalities, corneal clouding, ocular deposits and pigmentary changes in the macula. We report the presence of bilateral fovea sparing macular deposits in a 21-year-old woman with type 3 Gaucher disease. Macular deposits occur due to glucocerebroside accumulation within histiocytes and retinal deposits might correlate with the degree of systemic infiltration.

Entities:  

Keywords:  Gaucher disease; glycolipids; retinal Gaucher cells

Year:  2018        PMID： 30524494      PMCID： PMC6276951          DOI： 10.1080/01658107.2017.1420084

Source DB:  PubMed          Journal:  Neuroophthalmology        ISSN： 0165-8107


  8 in total

1.  Ocular manifestations of Gaucher's disease.

Authors:  M Petrohelos; D Tricoulis; I Kotsiras; A Vouzoukos
Journal:  Am J Ophthalmol       Date:  1975-12       Impact factor: 5.258

2.  Vitreous opacities and retinal vascular abnormalities in Gaucher disease.

Authors:  Eric M Shrier; Charles C Barr; Gregory A Grabowski
Journal:  Arch Ophthalmol       Date:  2004-09

3.  [Retinal involvement in Gaucher's disease].

Authors:  M J Gonzalez Rodriguez; H Pintado Conde; C Lopez Nieto; A Capdevila Puerta; J P Torres Carrete
Journal:  J Fr Ophtalmol       Date:  1992       Impact factor: 0.818

Review 4.  Gaucher disease: multiple lessons from a single gene disorder.

Authors:  Ernest Beutler
Journal:  Acta Paediatr Suppl       Date:  2006-04

5.  Histologic and histochemical investigation of Gaucher cells.

Authors:  T Matsubara; S Yoshiya; M Maeda; R Shiba; K Hirohata
Journal:  Clin Orthop Relat Res       Date:  1982-06       Impact factor: 4.176

6.  Pathology of the Gaucher cell.

Authors:  J L Parkin; R D Brunning
Journal:  Prog Clin Biol Res       Date:  1982

7.  Macular changes in type I Gaucher's disease.

Authors:  G Rosenthal; G Wollstein; I Klemperer; R Yagev; T Lfshitz
Journal:  Ophthalmic Surg Lasers       Date:  2000 Jul-Aug

8.  The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.

Authors:  Nadia Sawicka-Gutaj; Maciej Machaczka; Izabela Kulińska-Niedziela; Jadwiga Bernardczyk-Meller; Paweł Gutaj; Jerzy Sowiński; Marek Ruchała
Journal:  Ups J Med Sci       Date:  2016-04-11       Impact factor: 2.384
  8 in total
  1 in total

1.  A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.

Authors:  Susanne Hopf; Norbert Pfeiffer; Matthias Liesenfeld; Karl-Eugen Mengel; Julia B Hennermann; Irene Schmidtmann; Susanne Pitz
Journal:  Orphanet J Rare Dis       Date:  2019-11-14       Impact factor: 4.123
  1 in total

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