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JAMA Ophthalmology Clinical Challenge
December 15, 2016

Unilateral Optic Nerve Edema With Preserved Visual Function

Author Affiliations
  • 1Department of Ophthalmology, University of Toronto, Toronto, Ontario, Canada
JAMA Ophthalmol. Published online December 15, 2016. doi:10.1001/jamaophthalmol.2016.3787

A man in his 50s reported a 4-week history of intermittent blurry vision in the right eye. Review of systems was positive for a skin rash on the upper arms and trunk, which he noticed 2 months earlier. Medical history included well-controlled type 2 diabetes treated with metformin and sitagliptin.

Best-corrected visual acuity was 20/20 OU. There was a barely perceptible right relative afferent pupillary defect. Anterior segment examination was normal. On ophthalmoscopy, there were few vitreous cells with no detectable haze and optic nerve head edema grade IV on the Frisén scale, with peripapillary flame hemorrhages in the right eye (Figure); the optic nerve was normal on the left. Automated perimetry using the 24-2 pattern and Swedish interactive threshold algorithm strategy (Humphrey Field Analyzer; Carl Zeiss Meditec) was normal in each eye and optical coherence tomography showed marked elevation of the peripapillary retinal nerve fiber layer on the right. The remainder of the neurological examination was normal.

Fundus picture of the right eye demonstrating optic nerve head edema with peripapillary flame hemorrhages.

Fundus picture of the right eye demonstrating optic nerve head edema with peripapillary flame hemorrhages.

Box Section Ref ID

What Would You Do Next?

  1. Perform a lumbar puncture with opening pressure measurement and cerebrospinal fluid analysis

  2. Order bloodwork (complete blood cell count, erythrocyte sedimentation rate, C-reactive protein, VDRL, angiotensin-converting enzyme, and antinuclear antibody) and magnetic resonance imaging of the brain and orbits

  3. Order molecular testing for Leber hereditary optic neuropathy

  4. Order computed tomography of the orbits


Unilateral syphilitic optic perineuritis

What to Do Next?

B. Order bloodwork (complete blood cell count, erythrocyte sedimentation rate, C-reactive protein, VDRL, angiotensin-converting enzyme, and antinuclear antibody) and magnetic resonance imaging of the brain and orbits

Unilateral optic disc edema in the setting of normal visual function prompts further workup to rule out infectious or inflammatory etiologies, as there are a limited number of entities that can cause a swollen optic nerve with normal visual function. Magnetic resonance imaging of the brain is important in the workup of all atypical optic neuropathies to detect compressive and inflammatory lesions and to assess blood-retinal barrier permeability, which will be increased in inflammatory etiologies. This presentation is not compatible with the diagnosis of Leber hereditary optic neuropathy, where the optic nerve usually looks only slightly hyperemic and central acuity is significantly decreased. Computed tomography of the orbits would not provide as much information as the magnetic resonance imaging and would expose the patient to unnecessary radiation. Lumbar puncture might be necessary but should always be preceded by neuroimaging.

The patient’s serology revealed positive results of the rapid plasma reagin test (titer 1:512) and the Treponema pallidum particle agglutination test was reactive. On further questioning, the patient reported being sexually active with men and recently engaging in unprotected oral sex.

Syphilis has seen a resurgence since the late 1990s in industrialized countries in North America and Europe.1 Known as the great masquerader, syphilis can present with a broad array of ocular clinical presentations, such as anterior uveitis, vitritis, chorioretinitis, periphlebitis, exudative retinal detachments, and papillitis.2 In our era, syphilis usually affects men having sex with men, many of whom are co-infected with human immunodeficiency virus (HIV).3

Syphilitic optic neuritis has been widely accepted as being part of the tertiary stage of the disease and neurosyphilis requires treatment with intravenous aqueous penicillin G for a course of 10 to 14 days as well as confirmation of successful treatment with cerebrospinal fluid analysis with VDRL titers.4

This condition has been reported to be usually bilateral, but, in rare instances, it can present unilaterally. It can present as perineuritis, anterior or retrobulbar optic neuritis, or optic disc edema.5

Optic perineuritis, a form of inflammation of the optic nerve sheath, typically presents with preserved central visual acuity and color vision. The visual fields are typically normal or may demonstrate an enlargement of the blind spot or minimal peripheral field loss,6 rendering disease monitoring challenging. Peripapillary optical coherence tomography in these cases is very useful for quantifying the optic disc edema in the course of follow-up.5 Normal intracranial pressure on lumbar puncture and evidence of central nervous system infection are required for the diagnosis of optic perineuritis.6

Syphilis can be rapidly progressive and more severe in patients co-infected with HIV, thus prompting early diagnosis and treatment, as both are readily available.7

Patient Outcome

The patient was referred to an infectious diseases clinic. Test results for HIV, hepatitis C, gonorrhea, and chlamydia were negative. He received intravenous penicillin for a total of 14 days. Optic nerve edema has completely resolved following treatment and visual function remained normal.

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Article Information

Corresponding Author: Kinda Najem, MD, Department of Ophthalmology, University of Toronto, 801 Eglinton Ave W, Ste 301, Toronto, ON M5N 1E3, Canada (kinda.najem@gmail.com).

Published Online: December 15, 2016. doi:10.1001/jamaophthalmol.2016.3787

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

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