Optic disc drusen in a child: Diagnosis using noninvasive imaging tools

PURPOSE: To describe a case of bilateral optic nerve head drusen (ONHD) in a pediatric patient and the complementary use of advanced noninvasive imaging techniques to confirm this diagnosis. CASE REPORT: A 15-year-old female adolescent with type 1 diabetes and no ocular history was seen at a routine screening without complaints. Visual acuity was 20/20 bilaterally, and visual fields using frequency doubling technology (Zeiss Humphrey Systems, Dublin, CA) were within normal limits. Fundus photography (CX-1 Mydriatic/Non-Mydriatic Hybrid Digital Retinal Camera, Canon, Toyko, Japan) showed slight elevation of the left disc margin, with lack of physiologic cup, elevation of the inferior neuroretinal rim, and no swelling of the nerve fiber layer. Fundus autofluorescence image of the left eye showed hyperfluorescence in the inferior optic disc. Red/green/blue channel separation analysis using the blue channel (Eye-Q software, Canon, Irvine, CA) showed elevation of the nerve fiber layer without obscuration of small vessels surrounding the left optic disc. Embossed technique highlighted the drusen in the left disc. B-scan ultrasound (Eye Cubed, Ellex, Adelaide, Australia) showed a hyperechoic focus on the optic disc with posterior shadowing and corresponding spike on A-scan in both eyes, indicative of bilateral drusen. Optical coherence tomography (RTVue, Optovue, Fremont, CA) showed an elevation in the ONH corresponding to the drusen. CONCLUSIONS: The complementary use of noninvasive imaging modalities such as fundus autofluorescence, red/green/blue separation, B-scan, and optical coherence tomography is important in confirming the diagnosis of ONHD in pediatric patients. They allow us to rule out more serious conditions and avoid unnecessary, costly, and invasive investigative procedures, relieving young patients and their families of potential financial and emotional burdens.