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A woman in her early 50s was referred for decreased vision. Symptom onset was approximately 3 months prior to presentation when the patient began reporting difficulty reading. She was initially evaluated by her local eye care professional and noted to have visual acuity of 20/100 OD and 20/25 OS with cecocentral visual field defect in the right eye. Results of ophthalmoscopic examination of the optic nerves at this time revealed mild elevation of the optic nerves. Magnetic resonance imaging findings of the orbits were normal.
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Leber hereditary optic neuropathy
D. Perform genetic testing for Leber hereditary optic neuropathy
The patient had positive test results for the 11778 mutation confirming Leber hereditary optic neuropathy (LHON), a mitochondrial disease generally presenting in the second to third decades of life with subacute, bilateral, sequential painless vision loss. This patient is slightly atypical in that she is female and was 51 years of age at presentation. Males are 4 to 5 times more likely than females to be affected1 and account for 80% to 90% of cases of LHON.2 Approximately 95% of symptomatic patients experience vision loss before age 50 years, although vision loss has been reported in individuals aged from 2 to 87 years.2 Vision loss with LHON is usually manifested by cecocentral scotoma presenting first in 1 eye, followed by the other eye within 2 to 3 months. Up to 25% of patients will have bilateral symptoms at onset.1 Results of ophthalmoscopic examination at symptom onset may reveal peripapillary telangiectatic vessels or mild thickening of the retinal nerve fiber layer.3 Visual acuity worsens with expansion of the cecocentral scotoma, generally leaving patients at 20/200 acuity or worse before vision loss eventually stabilizes. Optic nerves develop appreciable significant pallor over time.3 Chances of spontaneous partial recovery depends on the genetic mutation, ranging anywhere from 37% to 58% in those with the 14484 mutation to as low as 4% in patients with the 11778 mutation.2
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Corresponding Author: John J. Chen, MD, PhD, Department of Ophthalmology, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (email@example.com).
Published Online: June 28, 2018. doi:10.1001/jamaophthalmol.2018.0077
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.
Funding/Support: This work was supported in part by an unrestricted grant to the Department of Ophthalmology by Research to Prevent Blindness.
Role of the Funder/Sponsor: The funding source had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the patient for granting permission to publish this information.
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