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Swelling Superimposed on Atrophy Masks Optic Nerve Pathology
THE JOURNAL OF PEDIATRICS • www.jpeds.com
INSIGHTS AND IMAGES
Swelling Superimposed on Atrophy Masks Optic Nerve Pathology
A
n otherwise healthy 16-year-old African American female presented to the neuro-ophthalmology clinic with bilateral vision loss. Two months prior, she was evaluated by her optometrist with complaints of decreased vision which was attributed to functional vision loss. She denied use of medication and admitted to transient headaches and bilateral proximal weakness in the lower extremities. Her visual acuity was 8/400 in the right eye and 16/400 in the left, color vision was 1/10 in the right eye and 0/10 in the left. Her pupils were equal and sluggishly reactive to light. Her intraocular pressure was 21 mm Hg in both eyes. Fundoscopic examination showed subtle, if any, optic nerve pallor bilaterally but was otherwise normal. Optical coherence tomography of the peripapillary retinal nerve fiber layer revealed average thickness of 112 mm in the right eye and 90 mm in the left (normal for age, 85-110). However, there was significant thinning of the retinal ganglion cell layer at the macula (Figure 1; available at www.jpeds.com). Cranial magnetic resonance imaging demonstrated significant lateral and third ventricle enlargement with a tectal mass obstructing the cerebral aqueduct (Figure 2). She underwent third ventriculostomy with placement of a programmable ventriculoperitoneal shunt. At the 5-month follow-up, her hydrocephalus had resolved, her vision improved slightly to 10/200 in the right and 20/400 in the left and her intraocular pressure was 12 mm Hg bilaterally. Fundoscopy showed bilateral temporal optical nerve pallor, and optical coherence
tomography showed a significant decrease in the retinal nerve fiber layer. This case demonstrates that, when edema is superimposed on pallor, fundoscopic examination and peripapillary retinal nerve fiber layer1 can seem deceptively normal. In these cases, ancillary testing, such as optical coherence tomography,2 can be helpful when looking for a cause of optic neuropathy and examining the macula for ganglion cell loss2,3 can provide clues to the diagnosis. ■ Isaac D. Bleicher, SB Mays A. El-Dairi, MD Department of Ophthalmology Duke University School of Medicine Durham, North Carolina
References 1. Lee H, Proudlock FA, Gottlob I. Pediatric optical coherence tomography in clinical practice—recent progress. Invest Ophthalmol Vis Sci 2016;57:OCT69-79. 2. Kardon R. The role of the macula OCT scan in neuro-ophthalmology. J Neuroophthalmol 2011;31:353-61. 3. OCT Sub-Study Committee for NORDIC Idiopathic Intracranial Hypertension Study Group, Auinger P, Durbin M, Feldon S, Garvin M, Kardon R, et al. Baseline OCT measurements in the idiopathic intracranial hypertension treatment trial, part I: quality control, comparisons, and variability. Invest Ophthalmol Vis Sci 2014;55:8180-8.
Figure 2. Significant lateral and third ventricle enlargement with stretching of the optic chiasm and a mass (arrow) obstructing the cerebral canal.
J Pediatr 2017;180:285 0022-3476/$ - see front matter. © 2016 Elsevier Inc. All rights reserved. http://dx.doi.org10.1016/j.jpeds.2016.09.046
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THE JOURNAL OF PEDIATRICS • www.jpeds.com
Volume 180
Figure 1. Fundoscopy (left) shows minimal pallor without evidence of papilledema. Peripapillary retinal nerve fiber layer (center) is normal for age, but macular optical coherence tomography (right) shows significant thinning of the ganglion cell layer (arrow). INF, inferior; NAS, nasal; SUP, superior; TMP, temporal.
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Bleicher and El-Dairi
INSIGHTS AND IMAGES
Swelling Superimposed on Atrophy Masks Optic Nerve Pathology
A
n otherwise healthy 16-year-old African American female presented to the neuro-ophthalmology clinic with bilateral vision loss. Two months prior, she was evaluated by her optometrist with complaints of decreased vision which was attributed to functional vision loss. She denied use of medication and admitted to transient headaches and bilateral proximal weakness in the lower extremities. Her visual acuity was 8/400 in the right eye and 16/400 in the left, color vision was 1/10 in the right eye and 0/10 in the left. Her pupils were equal and sluggishly reactive to light. Her intraocular pressure was 21 mm Hg in both eyes. Fundoscopic examination showed subtle, if any, optic nerve pallor bilaterally but was otherwise normal. Optical coherence tomography of the peripapillary retinal nerve fiber layer revealed average thickness of 112 mm in the right eye and 90 mm in the left (normal for age, 85-110). However, there was significant thinning of the retinal ganglion cell layer at the macula (Figure 1; available at www.jpeds.com). Cranial magnetic resonance imaging demonstrated significant lateral and third ventricle enlargement with a tectal mass obstructing the cerebral aqueduct (Figure 2). She underwent third ventriculostomy with placement of a programmable ventriculoperitoneal shunt. At the 5-month follow-up, her hydrocephalus had resolved, her vision improved slightly to 10/200 in the right and 20/400 in the left and her intraocular pressure was 12 mm Hg bilaterally. Fundoscopy showed bilateral temporal optical nerve pallor, and optical coherence
tomography showed a significant decrease in the retinal nerve fiber layer. This case demonstrates that, when edema is superimposed on pallor, fundoscopic examination and peripapillary retinal nerve fiber layer1 can seem deceptively normal. In these cases, ancillary testing, such as optical coherence tomography,2 can be helpful when looking for a cause of optic neuropathy and examining the macula for ganglion cell loss2,3 can provide clues to the diagnosis. ■ Isaac D. Bleicher, SB Mays A. El-Dairi, MD Department of Ophthalmology Duke University School of Medicine Durham, North Carolina
References 1. Lee H, Proudlock FA, Gottlob I. Pediatric optical coherence tomography in clinical practice—recent progress. Invest Ophthalmol Vis Sci 2016;57:OCT69-79. 2. Kardon R. The role of the macula OCT scan in neuro-ophthalmology. J Neuroophthalmol 2011;31:353-61. 3. OCT Sub-Study Committee for NORDIC Idiopathic Intracranial Hypertension Study Group, Auinger P, Durbin M, Feldon S, Garvin M, Kardon R, et al. Baseline OCT measurements in the idiopathic intracranial hypertension treatment trial, part I: quality control, comparisons, and variability. Invest Ophthalmol Vis Sci 2014;55:8180-8.
Figure 2. Significant lateral and third ventricle enlargement with stretching of the optic chiasm and a mass (arrow) obstructing the cerebral canal.
J Pediatr 2017;180:285 0022-3476/$ - see front matter. © 2016 Elsevier Inc. All rights reserved. http://dx.doi.org10.1016/j.jpeds.2016.09.046
285
THE JOURNAL OF PEDIATRICS • www.jpeds.com
Volume 180
Figure 1. Fundoscopy (left) shows minimal pallor without evidence of papilledema. Peripapillary retinal nerve fiber layer (center) is normal for age, but macular optical coherence tomography (right) shows significant thinning of the ganglion cell layer (arrow). INF, inferior; NAS, nasal; SUP, superior; TMP, temporal.
285.e1
Bleicher and El-Dairi