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Case Reports and Small Case Series
November 2000

Leber's Hereditary Optic Neuropathy Masquerading as Retinal Vasculitis

Arch Ophthalmol. 2000;118(11):1587-1589. doi:

Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by several specific point mutations in mitochondrial DNA. The mutation at nucleotide position 11778 was the first point mutation to be identified and is the most common point mutation associated with LHON. For decades the diagnosis of LHON was dependent on the presence of classic ophthalmoscopic findings of circumpapillary telangiectatic microangiopathy, swelling of the nerve fiber layer around the disc (pseudopapilledema), and the absence of leakage from the disc on fluorescein angiography. Genetic analysis allows characterization of the clinical spectrum of LHON through the identification of cases that in the past would have remained undiagnosed. We report a new finding of peripheral retinal phlebitis associated with the 11778 mutation in LHON.

Report of a Case

A 17-year-old African American woman with highmyopia was examined for a 5-month history of gradually declining vision in both eyes. There was no history of multiple sclerosis or LHON in family members. Visual acuity was 20/100 OD and 20/400 OS. There was a left relative afferent pupillary defect and dyschromatopsia detected by Ishihara color plate testing in each eye. Slitlamp examination results from both eyes were unremarkable. There were trace vitreous cells in both eyes and vitreous inflammatory condensates located inferiorly in the left eye, but no pars plana snowbanks were observed in either eye. Goldmann visual field testing showed bilateral central scotomas. Funduscopic examination revealed a right-tilted, dysplastic optic nerve and left optic nerve temporal pallor (Figure 1). The clinical maculae of both eyes were unremarkable. The retinal periphery of both eyes revealed inactive vasculitis with vascular sheathing of the retinal veins (Figure 2), but no evidence of vaso-occlusion. There was no arteriovenous shunting, retinal neovascularization, or intraretinal hemorrhage in the retinal periphery of either eye. A fluorescein angiogram of both eyes appeared normal with no retinal vascular leakage or staining.

Figure 1.
A, Tilted, dysplastic optic nerve. B, Optic nerve temporal pallor.

A, Tilted, dysplastic optic nerve. B, Optic nerve temporal pallor.

Figure 2.
Old, inactive retinal phlebitis as seen in the periphery of both eyes.

Old, inactive retinal phlebitis as seen in the periphery of both eyes.

The results of diagnostic laboratory tests, including a chest x-ray, VDRL test, fluorescent treponemal antibody absorption test, sickle cell test, tests of purified protein derivative (tuberculin), angiotensin-converting enzyme, lysozyme, Lyme antibodies, and serum electrophoresis, were unremarkable. Also unremarkable were test results for antithrombin III, prothrombin time, activated partial thromboplastin time, protein C, protein S, protein C resistance, antinuclear antibody, antiphospholipid antibodies, anticardiolipin antibodies, antineutrophil cytoplasmic antibody, and hepatitis B surface antigen.

The patient was given prednisone (60 mg/d) but failed to return until 2 months later with progressive visual loss and severe frontal lobe headaches. Visual acuity was now 2/200 OD with light perception OS. Ocular examination and fluorescein angiography were unchanged. Magnetic resonance images of the brain and lumbar puncture were unremarkable with no evidence of multiple sclerosis. Molecular genetic analysis for known LHON mutations was positive for the 11778 mutation. The patient was treated with coenzyme Q supplementation (300 mg/d) for 6 months but her vision failed to improve in either eye. The patient has not developed clinically positive multiple sclerosis.


Leber's hereditary optic neuropathy may masquerade as tobacco-alcohol amblyopia1 or Stargardt's maculopathy.2 The 11778 mutation has been associated with a demyelinating neurological condition indistinguishable from multiple sclerosis.3 The findings from our examination of this patient, including vitritis, vasculitis, and optic neuritis are commonly seen in patients with multiple sclerosis4 or multiple sclerosis–like syndromes such as pars planitis,5 further supporting an association between multiple sclerosis and LHON mutation 11178. These patients may be at high risk of developing multiple sclerosis years after the ocular findings are identified.

This case extends the clinical spectrum of LHON and does not indicate a coincidental occurrence of some other retinal inflammatory process with the mitochondrial mutation 11778. A complete systemic evaluation for vasculitis, hypercoagulable states, collagen vascular disease, and infection was unrevealing. This report lends support to the theory that LHON is a neuroretinopathy with a broad spectrum of genotype-specific phenotypes.

Corresponding author: Eric S. Mann, MD, PhD, Saint Louis University Eye Institute, 1755 S Grand Blvd, St Louis, MO 63104 (e-mail: manne4@slu.edu).

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Heher  KLJohns  DR Maculopathy associated with the 15257 mitochondrial DNA mutation.  Arch Ophthalmol. 1993;1111495- 1499Google ScholarCrossref
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