An 18-Month-Old With a White Optic Nerve Head Mass

Morning glory disc anomaly

B. Observation for the eye and MRI and magnetic resonance angiography of the head

The differential diagnosis of a white juxtapapillary mass in a young child includes retinoblastoma, retinal astrocytoma, and glial masses. Retinoblastoma presents as 1 or more retinal masses and is often associated with calcifications and subretinal or vitreous seeds.¹ Large vessels generally dive into the tumor and fine intratumoral vessels can be seen. If retinal astrocytoma was suspected, a skin examination for other stigmata of tuberous sclerosis (eg, ash leaf spots and shagreen patches) should be performed. Genetic testing for the TSC1 gene (chromosome 9) and TSC2 gene (chromosome 16) can be informative. However, congenital and acquired astrocytomas present as whitish-gray masses within the retinal nerve fiber layer with fine intratumoral vessels.¹ Diagnostic enucleation is indicated for medulloepithelioma, usually found in the ciliary body, for which a biopsy is contraindicated. Primary therapeutic enucleation may be indicated for retinoblastoma invading the optic nerve, for which orbital MRI can be helpful, along with brain MRI to assess for “trilateral” disease with pinealoblastoma. However, this case is most consistent with morning glory disc anomaly (MGDA).