Optical Coherence Tomography Findings of Optic Nerve Head Drusen in Children and Adolescents

PURPOSE: To analyze the features of optic nerve head drusen (ONHD) observed on the optical coherence tomography (OCT) of pediatric and adolescent patients and to compare the characteristics of diagnosed ONHD pediatric and adolescent patients with the control group. METHODS: We performed a retrospective chart review of pediatric and adolescent patients with nasal elevation or marginal blurring of the optic nerve head on either direct ophthalmoscopic examination or fundus photography. Patients were compared with a control group of the same age who had normal optic nerve heads and no abnormal findings except refractive errors under ophthalmic examination including OCT. RESULTS: There were 29 eyes (n = 16) with ONHD as a subretinal mass-like lesion on OCT among 84 eyes with nasal elevation or marginal blurring of the optic nerve head on OCT. Thirteen patients (18.8%) were diagnosed with ONHD in both eyes. The following 3 groups were compared: group 1, showing nasal elevation or marginal blurring of the optic nerve head on OCT and diagnosed with ONHD; group 2, without ONHD; group 3, normal controls. The spherical equivalent was significantly different among the groups (p < 0.001). Compared with group 3, group 1 showed peripapillary retinal nerve fiber layer thickening of the temporal area; however, there was no difference between groups 1 and 2. CONCLUSIONS: Buried ONHD in children and adolescents may be asymptomatic and the diagnosis can be made when a subretinal mass-like lesion is detected on OCT.

Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen.

Aim: To compare the spectral domain optical coherence tomography (SD-OCT) findings of the optic disc and the peripapillary retina of patients with a true papilledema and pseudopapilledema with and without optic nerve head drusen (ONHD). Study Design: Retrospective Case Control Study. Subjects and Methods: Peripapillary retinal nerve fiber layer (PPRNFL) thickness as depicted by SD-OCT of 94 eyes of 66 patients with papilledema (30 eyes), pseudopapiledema (31 eyes), and normal controls (33 eyes) was analyzed. The mean RNFL thickness, total retinal thickness (TRT) at a superior and inferior edge of the disc and the quadrant wise topography of increased RNFL were compared in all three groups. Sensitivity, specificity, and area under the receiver operating characteristic curve (AROC) were calculated for all the parameters. Results: The median RNFL thickness was 185.4 (129.5–349.3 μm), 122.3 (109–156.3 μm) and 91.62 ± 7 μm in papilledema, pseudopapilledema, and controls, respectively. Papilledema group had thicker PPRNFL in all quadrants except temporal quadrant. TRT was thicker in papilledema and pseudopapilledema compared to controls. ONHD could be directly visualized as high reflective clumps in the sub-retinal space or the RNFL in 30 eyes. Increased RNFL thickness in all four quadrants was noted 43.3% in papilledema and 9.7% in pseudopapilledema. Normal RNFL thickness in all four quadrants was noted in 0% in papilledema and 32.3% in pseudopapilledema. Nasal RNFL had the highest AROC (0.792) indicating high diagnostic ability to differentiate papilledema from pseudopapilledema. Conclusion: SD-OCT can be used as a tool to differentiate between papilledema and pseudopapilledema.

Anterior ischemic optic neuropathy in association with optic nervehead drusen.

Optic nerve head drusen (ONHD) are incidental ophthalmologic finding in the optic nerve. Patients with ONHD are often asymptomatic, but sometimes present with transient visual obscuration’s (TVO), the reported incidence of which is 8.6%. Optic nerve head drusen are of two types: Superficial; visible and deep. The deep‑buried drusen mimic papilledema. Because of the varied presentation deep‑buried drusen pose a diagnostic challenge to the ophthalmologists. In young patients, they are mistaken for papilledema as it is clinically difficult to detect a buried drusen in the optic nerve head, but are seen on the surface with aging as the retinal nerve fiber layer thins out. They are observed as pale yellow lesions more often located towards the poles. Clinical examination aided with diagnostic tests like computed tomography (CT) orbits and ultrasound B scan can help establish the diagnosis. Herein, we report a rare case of optic nerve head drusen in a young lady, who presented with loss of vision and clinical evaluation and investigations suggested ONHD with anterior ischemic optic neuropathy.

Optic Nerve Head Drusen in Goldenhar Syndrome

We report a case where bilateral drusen of the optic nerve head was found in association with Goldenhar syndrome and which, to the best of our knowledge, is the only report of its kind.