Literature DB >> 28248742

CENTRAL RETINAL VEIN OCCLUSION IN GATA2 DEFICIENCY.

Duncan Berry1, Sharon Fekrat.   

Abstract

PURPOSE: To examine the association between GATA2 deficiency-related myelodysplastic syndrome (MDS) and central retinal vein occlusion (CRVO).
METHODS: Clinical ophthalmologic examination and laboratory work-up was performed for a patient with GATA2 deficiency-related MDS who experienced a unilateral CRVO. The literature was reviewed for reports of CRVO in the setting of MDS and allogeneic hematopoietic stem cell transplantation.
RESULTS: Ophthalmologic examination revealed findings consistent with unilateral CRVO. Typical hypercoagulable work-up did not reveal an identifiable cause. A review of the patient's medical history revealed multiple potential causes of CRVO, including drug-induced and/or related to her history of MDS and hematopoietic stem cell transplantation. The literature was reviewed for reports of CRVO in association with her risk factors.
CONCLUSION: On review of the literature, we determined that GATA2 deficiency-related MDS was a possible cause of this patient's CRVO although it is likely that her multiple risk factors worked synergistically to create a prothrombotic state. This case and review of the literature serve as an important reminder of the long and ever-evolving list of risk factors for the development of CRVO.

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Year:  2019        PMID: 28248742     DOI: 10.1097/ICB.0000000000000558

Source DB:  PubMed          Journal:  Retin Cases Brief Rep        ISSN: 1935-1089


  3 in total

Review 1.  Germline GATA2 Mutation and Bone Marrow Failure.

Authors:  Lisa J McReynolds; Katherine R Calvo; Steven M Holland
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-28       Impact factor: 3.722

Review 2.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

3.  Germline GATA2 variant disrupting endothelial eNOS function and angiogenesis can be restored by c-Jun/AP-1 upregulation.

Authors:  Giulio Purgatorio; Elisa Piselli; Giuseppe Guglielmini; Emanuela Falcinelli; Loredana Bury; Valeria Di Battista; Fabrizia Pellanera; Francesca Milano; Caterina Matteucci; Cristina Mecucci; Paolo Gresele
Journal:  Haematologica       Date:  2022-05-01       Impact factor: 11.047

  3 in total

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