Abstract

We report a case of a 14-year-old female with Sturge-Weber syndrome (SWS) presenting with diminution of vision in the left eye. On examination, she had left eye exotropia with hypertropia, disc edema, and a large choroidal lesion in the macular area with pigmentary atrophy, telangiectatic vessels, large multiple neovascularizations elsewhere, and shallow exudative retinal detachment. Magnetic resonance imaging (MRI) showed uniform enlargement of all the ocular muscles and retrobulbar fat stranding. This has rarely been reported in this condition. This suggests that the underlying etiology is likely a vascular malformation, such as a caroticocavernous fistula or intramuscular hemangioma. SWS is a rare neurocutaneous disorder caused by a mutation in the GNAQ gene. It is characterized by a port-wine stain birthmark on the face, glaucoma, and seizures. Ocular involvement in SWS is common and can include glaucoma, choroidal hemangioma, and retinal detachment.