Camurati-Engelmann disease with bilateral proptosis and optic neuropathy: a case report and literature review.

A 29-year-old woman presented with bilateral proptosis, hypothyroidism and a 15-year history of hearing loss and limb pain.

Superior visual field defects were detected on automated perimetry.

Imaging revealed systemic skeletal abnormalities, including macrocephaly, mandibular overgrowth, and cortical thickening of multiple bones.

Genetic testing confirmed a pathogenic TGFB1 mutation, establishing the diagnosis of Camurati-Engelmann disease.