Ophthalmological and epidemiological profiles of Brazilian patients with philadelphia-negative Myeloproliferative neoplasms.

INTRODUCTION

Philadelphia-negative myeloproliferative neoplasms comprise a rare and biologically heterogeneous spectrum of hematopoietic stem cell malignancies. According to established clinicopathological criteria, these entities are principally categorized as polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Ophthalmic manifestations are common in hematological diseases, yet they remain under-researched in this patient population.

METHODS

The purpose of this study is to analyze the ophthalmological and epidemiological profile of patients, describing ocular findings of Philadelphia-negative Myeloproliferative Neoplasms. Twenty-one individuals (forty-two eyes) with a Philadelphia-negative myeloproliferative neoplasm had their medical records selected, analyzed and relevant data collected. They were subsequently subjected to a complete ophthalmological evaluation, with assessment of visual acuity, biomicroscopy and fundoscopy employing wide-field color retinography and wide-field fundus autofluorescence examinations.

RESULTS

The mean age of participants was approximately 60 years, with a white demographic predominance and no sex bias. Most patients achieved early clinical diagnosis and effective disease control, with a high frequency harboring the JAK2 V617F mutation. Patients reported no subjective complaints of low visual acuity, and posterior segment involvement was sparse. Retinal hemorrhages were uncommon, occurring predominantly in polycythemia vera due to hyperviscosity or microvascular thrombosis in the absence of confounding ocular or systemic conditions. Fundoscopic lesions were mostly driven by comorbid diagnoses, specifically age-related macular degeneration (19.4%) and hypertensive retinopathy (9.5%).

CONCLUSION

Brazilian patients with well-controlled Ph-NMPs and early diagnosis rarely exhibit primary retinal complications or subjective low visual acuity. Retinal manifestations, particularly hemorrhages, are infrequent despite high rates of the JAK2 V617F mutation. Ocular findings in this population are more commonly driven by concurrent systemic or degenerative conditions, notably age-related macular degeneration.