Janus kinase 2 mutation-negative polycythemia-associated retinal changes in otherwise asymptomatic patients

Abstract

Purpose: The purpose of this study was to document secondary polycythemia (SP)-associated retinal changes and the favorable role of phlebotomy in the treatment of SP-induced retinal complications. Design: This was a retrospective, observational, noncomparative case series. Participants: A total of 8 eyes of 4 male patients with an age range of 28–78 years were studied. Materials and Methods: A total of 04 consecutive patients were received over a year on an outpatient basis at a single tertiary care center, with only vision-related complaints. After documentation of ocular findings, all the patients were subjected to meticulous clinical and laboratory evaluation to determine the cause of ocular conditions. Patients were subjected to the treatment for underlying pathological conditions based on the outcomes of their clinical and laboratory evaluation. Main Outcome Measures: Determination of Janus kinase 2 (JAK2) mutation-negative SP as a cause of associated retinal complications and favorable role of phlebotomy as a treatment measure. Results: All the patients were adult, nonsmoker, and nonalcoholic males. A total of 05 eyes were diagnosed with proliferative vitreoretinopathy while 2 eyes had retinal venous occlusion. One eye was normal. Except SP, no other cause for retinal lesions could be ascertained in all patients. Three patients underwent phlebotomy as decided by the hematologists. Each patient was followed monthly for 6 months. All the patients showed resolution of retinal lesions at the end of follow-up. Conclusion: Nonpolycythemia vera (PV) erythrocytosis or unmutated JAK2 SP is still a very poorly studied entity. Almost no information is available regarding ocular involvement and its treatment in SP. Our observations suggest that SP may run a chronic course causing serious retinal damage such as other myeloproliferative disorders or PV and that phlebotomy has an important role in the management of such cases.