McCune-Albright syndrome with loss of vision and its management: a case report
Abstract
McCune-Albright syndrome (MAS) is defined by the triad of café-au-lait macules, endocrinopathies, and polyostatic fibrous dysplasia (FD) of the bone. It results from somatic GNAS mutations leading to mosaic Gαs activation. FD can result in bone deformities, fractures, and cranial nerve compression, including optic neuropathy. Optic nerve compression by FD may lead to visual disturbances or even blindness. We report a 13-year-old boy with MAS and left eye visual impairment due to optic nerve compression by FD. Endoscopic transnasal optic nerve decompression of the optic nerve was performed. Postoperatively, the patient exhibited slight visual improvement, though delayed intervention may have limited recovery. The case report highlights endoscopic decompression as a safe and effective approach for FD-related optic neuropathy, though optimal timing remains debated. Prophylactic intervention in high-risk cases warrants further investigation to prevent irreversible vision loss.
Fields of Study & Subjects
Bone Tumor Diagnosis and Treatments
Pituitary Gland Disorders and Treatments
Parathyroid Disorders and Treatments
Publication details
- Journal / source
- Journal of pediatric and neonatal individualized medicine
- Publication date
- 1 February 2026
- Language
- EN