CENTRAL RETINAL VEIN OCCLUSION IN GATA2 DEFICIENCY

To examine the association between GATA2 deficiency-related myelodysplastic syndrome (MDS) and central retinal vein occlusion (CRVO).

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.

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.

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.