A child with unilateral disk elevation

A healthy 7-year-old girl underwent a routine eye examination and was referred for unilateral, left optic nerve swelling. Best-corrected visual acuity in the affected eye was 20/20 with full Ishihara color plates and no relative afferent pupillary defect. Initial extensive workup was normal for any cause of unilateral disk swelling. When the patient returned a few years later with decreased vision, a thickened, gray-white preretinal tissue with surrounding retinal contraction and a surrounding charcoal gray lesion had developed in her optic nerve. Spectral-domain optical coherence tomography over the optic nerve demonstrated distortion of the inner retinal architecture, a dense epiretinal membrane, and high internal reflectivity. Clinical examination and imaging revealed a diagnosis of combined hamartoma of the retina and retinal pigment epithelium.