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Subacute bilateral visual loss in methylmalonic acidemia.

Ghislaine Traber1, Matthias R Baumgartner, Urs Schwarz

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Ophthalmology

Background:

  • Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder.
  • Optic neuropathy is a potential but rarely reported complication of MMA.

Observation:

  • A 23-year-old woman with MMA experienced sudden bilateral vision loss.
  • Ophthalmic examination revealed optic nerve atrophy.
  • Standard differential diagnoses for optic neuropathy were excluded.

Findings:

  • High-dose steroids and supplements were ineffective.
  • Metabolic control of MMA was maintained.
  • MRI demonstrated enhancement of both optic nerves, indicating inflammation or damage.

Implications:

  • This case suggests toxic optic neuropathy is a mechanism for vision loss in MMA.
  • MRI findings provide a morphological correlate for this complication.
  • Highlights the importance of monitoring visual function in MMA patients.