A 5-year-old girl was referred to ophthalmology care for evaluation of nystagmus. Her medical history included esophageal atresia, small bowel obstruction, mild cognitive impairment, low tone, and increased reflexes. Prenatal history was complicated by insulin-controlled gestational diabetes and polyhydramnios. Her ocular history was notable for eye movement abnormalities since birth. She had no family history of ocular disease.
On examination, her visual acuity was 20/150 OU and did not improve with correction (right eye, −1.50 [2.00] × 180; left eye, −1.00 [1.50] × 180). Pupillary responses were normal. Alternating vertical and torsional nystagmus was noted (Figure 1). Specifically, 1 eye was noted to rise and intort while the other would fall and extort, followed by reversal of the vertical and torsional components in the opposite eye (Video). The optic nerve and foveal reflexes were normal in both eyes. Flash visual evoked potential (VEP) demonstrated strong ipsilateral activity of the occipital lobe. Results of a previously obtained brain magnetic resonance imaging (MRI) scan were reported as normal.
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Alejandra G. de Alba Campomanes, MD, Department of Ophthalmology, University of California, San Francisco, 490 Illinois St, San Francisco, CA 94158 (firstname.lastname@example.org).
Published Online: April 27, 2023. doi:10.1001/jamaophthalmol.2023.0948
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient’s family for providing permission to publish this report.
Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:
It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.
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