CENTRAL RETINAL VEIN OCCLUSION IN GATA2 DEFICIENCY.
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.
Duke Scholars
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Related Subject Headings
- Retinal Vein Occlusion
- Mutation, Missense
- Humans
- GATA2 Transcription Factor
- GATA2 Deficiency
- Female
- Fatal Outcome
- Adolescent
- 3212 Ophthalmology and optometry
- 1113 Opthalmology and Optometry
Citation
Published In
DOI
EISSN
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Retinal Vein Occlusion
- Mutation, Missense
- Humans
- GATA2 Transcription Factor
- GATA2 Deficiency
- Female
- Fatal Outcome
- Adolescent
- 3212 Ophthalmology and optometry
- 1113 Opthalmology and Optometry