Central Retinal Vein Occlusion as the Debut of a Chronic Myeloproliferative Neoplasm

Abstract

Introduction. Most retinal vascular diseases are associated with systemic risk factors such as hypertension, diabetes mellitus, age and smoking. However, in their absence, further examination is required to identify possible hematological disorders.Purpose. Improve the diagnostic and management scheme for patients with occlusion of the central retinal vein or its branches.Materials and methods. A clinical case of the onset of polycythemia vera with the central retinal vein occlusion is described. As part of the study, a molecular genetic analysis was carried out to identify the driver mutation JAK2V617F in peripheral blood as a screening diagnosis of Ph-negative chronic myeloproliferative neoplasms (CMN), a cytological, cytogenetic study of bone marrow aspirate and a morphological study of bone marrow trephine biopsy.Results. A mutant allele of the JAK2V617F gene with a diagnostically significant allele load of 14.61 % was determined in a patient hospitalized in the ophthalmology department with a diagnosis of central retinal vein occlusion (CRVO) of the right eye. The patient was referred for further examination to the Moscow City Hematology Center of Botkin City Clinical Hospital, where, aſter examination, the diagnosis was established: True polycythemia.Discussion. CMN are a group of tumor diseases of hematopoietic tissue characterized by malignant transformation of bone marrow stem cells with their subsequent clonal proliferation. Cytogenetic and molecular genetic disorders play a significant role in the pathogenesis of chronic CMN. True polycythemia, essential thrombocytemia, primary myelofibrosis belong to the group of classical Ph-negative CMP, Thrombotic, vascular and hemorrhagic complications are the most common causes of death in patients with this pathology.Conclusion. Previously, various ophthalmological manifestations and symptoms have been described in patients with CMN. The observed complications are diverse and oſten secondary to the pathognomonic hematological disorders for these diseases. It is worth considering the clinical value of molecular genetic analysis to detect the JAK2V617F mutation in patients with central retinal vein occlusion for early diagnosis of CMN and timely administration of appropriate therapy.