Case Report: Vision-threatening manifestations of choroidal osteomas and papilloedema in presumed Camurati-Engelmann disease.

Camurati-Engelmann Disease (CED) is a rare sclerosing bone dysplasia in which skull-base hyperostosis may result in neuro-ophthalmic complications. We report a 21-year-old woman with presumed CED and known bilateral choroidal osteomas who presented with bilateral optic nerve swelling. Neuroimaging demonstrated diffuse cranial hyperostosis with optic canal narrowing but no definitive optic nerve compression or venous sinus thrombosis. Lumbar puncture confirmed raised intracranial pressure with an opening pressure of 33 cm H₂O. Optical coherence tomography revealed right eye subretinal fluid without choroidal neovascular membrane. Papilloedema improved initially with acetazolamide, but treatment was changed to oral furosemide due to intolerance to acetazolamide. There was continued visual decline in association with progressive subretinal fluid. Right eye intravitreal bevacizumab was ineffective, while fovea-sparing photodynamic therapy achieved resolution of subretinal fluid but was complicated by retinal pigment epithelial and photoreceptor loss. At 2.5-year follow-up, visual acuity was reduced in both eyes, with mild bilateral chronic papilloedema and enlargement of choroidal osteomas. This case illustrates multifactorial visual loss in CED with skull base hyperostosis arising from raised intracranial pressure and co-existing retinochoroidal pathology. This is the first documented case of CED with bilateral choroidal osteomas and highlights the role of multimodal imaging and multidisciplinary collaboration.