McCune-Albright syndrome with loss of vision and its management: a case report

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Authors: Mazin Mahmoud Fawzi, Muaid I. Aziz Baban, Basil M. N. Saeed, Faehaa Al-Mashhadane
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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