An otherwise healthy 12-year-old boy originally from Palestine was referred for refractory papilledema secondary to familial IIH. He has a history of fully accommodative esotropia with onset age 2-3. At age 9, elevated optic nerves prompted a neuro-ophthalmic referral. Best corrected visual acuities were subnormal at 20/60 OU. Optic disc drusen were confirmed on fundus autofluorescence but superimposed by papilledema with obscuration of the retinal vessels OD>OS. MRI findings were consistent with elevated intracranial pressure (Figure 1). Lumber puncture showed normal spinal fluid constituents and an opening pressure of 24 cm H2O. He was diagnosed with familial idiopathic intracranial hypertension because his 9-year-old sister presented at the same time with similar neuro-ophthalmic findings and headaches that resolved after lumbar puncture. Oral acetazolamide 375 mg TID (15 mg/kg/day) improved the optic nerve appearance and his visual acuity on follow up. Subsequently, gains in visual acuity reverted to baseline, and his disc appearance worsened. OCT of the macula showed abnormal foveal contour and intraretinal fluid, felt consistent with refractory papilledema. Repeat opening pressure read 26 cm H2O. A second opinion was obtained for consideration of optic nerve sheath fenestration. Subnormal visual acuities of 20/50 OD and 20/40 OS with best correction of +14.00sphere OD and +13.25+0.50x090 OS were noted. Goldmann perimetry showed constricted fields OU with an enlarged blind spot OD and a superonasal defect OS (Figure 2). Examination showed normal anterior segments, 2+ vitreous cells, and nerve fiber layer thickening with blurred optic disc margins and blunted foveal reflexes OU (Figure 3). Scattered, faint tessellated pigmentary changes were noted throughout the mid-peripheral retinae. The patient was discontinued from acetazolamide under consideration of an alternative diagnosis. Fluorescein angiography subsequently showed no leakage from the optic nerve heads but window defects in the inferonasal mid-periphery. A confirmatory diagnostic test was obtained.
Relation is Part of
NANOS Annual Meeting 2021: Walsh Session I
Eric D. Gaier, MD, PhD
Farrah Rajabi, Anne Fulton, Gyula Acsadi, David Waitzman
Spencer S. Eccles Health Sciences Library, University of Utah