Bilateral optic disk melanocytoma in a 10-month-old infant.

PURPOSE: To report bilateral optic disk melanocytoma in a healthy infant,
METHOD: Case report.
RESULTS: A 10-month-old healthy boy presented with intermittent right exotropia. Dilated fundus examination showed a heavily pigmented mass within both optic disks. The optic disks were hypoplastic, and there was diffuse retinal pigment epithelial mottling around the optic disks. Systemic evaluation including thyroid function tests, pituitary gland hormone levels, adrenal gland hormone levels, and magnetic resonance imaging of the brain revealed normal findings. After 1 year, the lesions remained stable, and the patient was healthy with normal growth and development.
CONCLUSION: Bilateral optic disk melanocytoma is uncommon. Although this patient had no systemic problem, a literature review revealed an association of bilateral optic disk melanocytoma, optic disk hypoplasia, and central nervous system abnormalities such as meningioma and hypopituitarism. Systemic evaluation for central nervous system abnormalities is warranted in such cases.