Hello,
Apologies for the long post. Short and long version below, as well as some images.
Short version:
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February 2025: Painful visual loss of the right eye with mild optic disc edema.
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MRI: Persistent heterogeneous aspect confined to the right optic nerve on T2 without convincing optic nerve enlargement; essentially unchanged over 12 months. No pathological contrast enhancement. Enhanced right optic nerve on T2 STIR.
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Treatment: Intravenous methylprednisolone and immunosuppressive therapy without meaningful clinical improvement.
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Outcome right eye: Progressive deterioration to no light perception with complete RNFL and ganglion cell layer atrophy.
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June 2026: Progressive visual loss of the left eye. Plasma exchange to no avail.
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Left eye findings: Goldmann perimetry shows only a small inferotemporal visual field island, while RNFL and ganglion cell layer remain normal on OCT.
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Additional finding: Absent corneal sensation in the right eye. Right pupil still responds to light.
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Diagnostic challenge: Persistent enhancement of the right optic nerve, lack of response to aggressive immunotherapy, and sequential bilateral optic neuropathy suggest an infiltrative or neoplastic optic neuropathy, but the initial pain, absence of temporal visual field loss, lack of optic nerve enlargement, and normal left OCT despite severe functional loss are atypical.
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Current status: Optic nerve biopsy was discussed but declined by the patient. A repeat course of plasma exchange has been initiated while further diagnostic evaluation continues.
Long version:
A 47-year-old-aged man from Turkish origin developed visual loss of the right eye with pain on eye movement in February 2025. Examination at presentation demonstrated mild right optic disc edema, and MRI showed a soimewhat heterogeneous aspect on T2 confined to the right optic nerve without convincing optic nerve enlargement.
The patient was initially treated elsewhere as presumed optic neuritis with intravenous methylprednisolone, followed by immunosuppressive therapy, but vision progressively deteriorated to no light perception (NLP) in the right eye without meaningful clinical improvement.
Serial MRI examinations over the subsequent 12 months demonstrated persistent enhancement of the right optic nerve with essentially unchanged imaging. No pathological contrast enhancement. Enhanced right optic nerve on T2 STIR.
In June 2026, the patient developed progressive visual loss in the left eye. Automated perimetry demonstrated a superior altitudinal deficit. Plasma exchange was given, but to no avail.
The patient was then sent to me, last week (03 July). Goldmann perimetry showed that only an inferotemporal visual field island remained in his left eye. Notably, there was no temporal visual field defect suggestive of chiasmal dysfunction despite the apparent continuous involvement of the visual pathways on MRI.
Visual acuity was NLP OD and 1.0 OS. The right optic disc showed diffuse optic atrophy, whereas the left optic disc appeared normal. OCT demonstrated complete RNFL and ganglion cell layer atrophy in the right eye, but entirely normal RNFL and ganglion cell layer thickness in the left eye, despite the profound visual field defect. A mild right RAPD was present with the right pupil still responding to light. An additional unexpected finding was the complete absence of corneal sensation in the right eye, while facial cutaneous sensation was preserved.
Extensive investigations have failed to establish a diagnosis ("usual" work-up with infectious serology, NMO/MOGAD-screening, lumbar puncture, CT thorax, PET-scan, ...) .
The combination of persistent MRI enhancement, lack of response to aggressive immunotherapy, and progressive sequential bilateral optic neuropathy raised concern for an infiltrative or neoplastic optic neuropathy. Biopsy was suggested, but denied by the patient.
Findings that raise questions:
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initial pain on eye movements
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absence of temporal visual field loss,
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lack of optic nerve enlargement despite persistent enhancement
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normal structural OCT of the left eye despite severe functional loss
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loss of corneal sensitivity of the right eye
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interestingly, there is still a pupillary response to light in the right eye
I was wondering if anyone has any advice for treatment or diagnostic work-up?
Apologies for any missing information.
Kind regards,
Michel