Idiopathic Intracranial Hypertension in Patients with Inherited Retinal Degenerations: A Retrospective Case Series

Idiopathic intracranial hypertension (IIH) and inherited retinal degenerations (IRDs) can each threaten vision, yet their coexistence creates a uniquely challenging diagnostic setting because retinal degeneration may confound interpretation of optic disc swelling and visual symptoms of elevated intracranial pressure (ICP). To our knowledge, this overlap has not previously been explored in a dedicated case series. We retrospectively reviewed patients evaluated at a single tertiary center between 2002 and 2025 who had an IRD and confirmed or probable IIH. Seven patients were identified. All were female, with a mean age of 25.7 years at IIH diagnosis; six met criteria for obesity. IRD phenotypes comprised retinitis pigmentosa-spectrum disease in five patients, cone-rod dystrophy in one, and Bardet-Biedl syndrome-associated rod-cone dystrophy in one. Five patients underwent lumbar puncture, with a median opening pressure of 32 cm H2O. Six patients had bilateral optic disc edema at presentation; one had equivocal optic nerve elevation later supported as true edema. All seven received ICP-directed therapy, and six achieved sustained resolution or durable control of papilledema. Serial optic nerve examination and peripapillary retinal nerve fiber layer OCT were useful for diagnosis and longitudinal monitoring when interpreted with the clinical examination and other ancillary testing. IIH should be considered when optic disc elevation is encountered in patients with inherited retinal disease, although this descriptive series does not establish that IRD independently increases the risk of IIH.