FANDOM


Inheritance Pattern Edit

  • Mitochondrial

Gene Edit

  • Complex I Subunit Genes
    • ND1
    • ND4
    • ND6

Mutations Edit

  • Three common mutations make up 90%
    • m.11778G>A (ND4) = severe, poorest prognosis
    • m.14484T>C (ND6) = best prognosis with occasional visual recovery
    • m.3460G>A (ND1) = intermediate

Penetrance Edit

  • Homoplasmic in 85-90% of cases
  • Reduced penetrance among females
    • 50% of males will develop vision loss
    • 10% of females will develop vision loss

Features Edit

Ophthalmology

  • Loss of visual acuity

Cardiology

  • Arrhythmia

Neurology

  • Tremor
  • Peripheral Neuropathy
  • Myopathy
  • Movement Disorder

Management Edit

  • Cardiology
  • Ophthalmology
  • Neurology
  • Avoid mitochondrial toxins