A 22 year old woman with progressive vision loss

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A 22 year old woman with progressive vision loss

Teaching NeuroImages

Neurology

Resident and Fellow Section

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- Presented with painless binocular vision loss over 5 months - Associated with photopsia and visual scotomas

- Also had sensory loss and paresthesia over both lower extremities

- Her maternal uncle has Leber hereditary optic neuropathy

Kassa et al.

Vignette

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Kassa et al.

Fig. 1 Fig. 2

Imaging

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Leber hereditary optic neuropathy masquerading as neuromyelitis optica

- CSF analysis showed no nucleated cells, normal protein but elevated glucose and lactate;

oligoclonal bands, IgG index and aquaporin-4 antibodies were negative

- Our patient was confirmed to have LHON m.3460 G>A mitochondrial DNA point mutation - LHON causes bilateral sequential vision loss from selective retinal ganglion cell loss

thought to be through free radical oxidative injury¹

- Neuromyelitis optica-like presentation of LHON (optic neuropathy + longitudinally extensive myelopathy) is rare²

- The mechanism for spinal cord injury is unknown

Kassa et al.