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Differential diagnostic challenges in a case of a rare, neuro-ophthalmological disease
with atypical manifestation
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3
4
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Márton Edelmayer , Fanni Szabó-Jóföldi , Szilvia Vajda , Zsolt Mezei , Magdolna Simó ,
Krisztina Knézy , Zoltán Zsolt Nagy
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1 Péterfy Hospital, Department of Ophthalmology, Budapest1
2 Jahn Ferenc Hospital, Department of Ophthalmology, Budapest
3 Semmelweis University Department of Ophthalmology, Budapest
4 Semmelweis University Department of Neurology, Budapest
Objective: To present a rare neuro-ophthalmological disease and the related differential
diagnostics through a case study.
Patient and Methods: The leading symptoms of the 35-year-old male patient were diplopia,
painful movement of the right eye, subjective visual impairment (VA: 1.0). He had a prior
medical history of right knee arthritis, and confirmed HLA-B52 seropositivity. In addition to the
basic ophthalmological examinations, the diagnostic tools were OCT, ophthalmic ultrasound,
Hess diplopia chart, Goldmann perimetry, visual evoked potential (VEP), cranial-orbital CT and
MRI, immunoserology, and liquor analysis.

Results, follow-up: The OCT did not confirm a right sided disc edema, but the ophthalmoscopic
image showed forward bulging of the entire posterior pole, which raised suspicion of a
retrobulbar space occupying lesion. The ultrasound described the widening of the sheet of the
right optic nerve. The critical fusion frequency (CFF) was 35/44 Hz. The Goldmann-perimetry
showed a slightly enlarged blind spot on the right eye. The Hess chart revealed an elevational
deficit of the right eye. The CT of the skull gave a negative result, while the MRI of the orbit
described optic neuritis with perifocal edema. There was a slight increase of protein levels in
the CSF. The VEP examination indicated right-sided prechiasmal demyelination-like
dysfunction. The immunserological test showed strong anti-MOG positivity.

As a result, Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) with right optic
neuritis was confirmed, which is a rare, antibody-mediated, autoimmune, inflammatory,
demyelinating disease of the CNS. As a response to systemic steroid and azathioprine, the
inflammatory symptoms decreased. The side effects of the treatment - intraocular pressure
increase and central serous retinal detachment - regressed by the reduction of the steroid
dose, and pressure-lowering drops.

Conclusion: The diagnosis of MOGAD is possible by the detection of anti-MOG antibodies in
serum. In case of therapy-refractory, recurrent optic neuritis with atypical presentation, it must
be considered in ophthalmology practice and separated from other etiologies in order to
choose optimal therapy. The ophthalmologist plays a key role in establishing the correct
diagnosis, since the initial manifestation of MOGAD is often isolated optic neuritis. In this case,
the diagnosis was delayed by the atypical symptom presentation and the misleading
serodiagnostic results. Long-term systemic immunosuppressive therapy is essential in the
treatment of the disease and in the prevention of relapses.