Papilledema in identical twins: A rare presentation of benign intracranial hypertension

Idiopathic intracranial hypertension (IIH) is a disorder characterized by elevated intracranial pressure without an identifiable intracranial lesion or abnormal cerebrospinal fluid (CSF) composition. It predominantly affects obese women of reproductive age and commonly presents with headache, transient visual obscuration, papilledema, and potential progressive visual loss. Although its pathophysiology remains uncertain, impaired CSF absorption, hormonal influences, metabolic factors, and possible genetic susceptibility have been proposed. Familial clustering has been described, but cases in monozygotic twins are rare. We report monozygotic twins presenting with IIH within a short interval, one of whom experienced recurrence. Despite identical genetic backgrounds, variations in clinical presentation were observed, highlighting phenotypic variability. This report supports a potential genetic contribution to IIH and emphasizes the importance of early ophthalmic evaluation, careful monitoring, and consideration of family screening to prevent vision-threatening complications. Larger studies are needed to further clarify genetic associations.