Myotonic dystrophy

Common

• Early onset cataract
  • Pathognomonic: stellate posterior cortical catact
  • Also 'Christmas Tree' (polychromatic) cataract (can also be age-related finding)
• Ptosis
• Hypermetrophia

Stellate posterior cortical cataract

'Christmas Tree' (polychromatic) cataract

Uncommon

• Mild opthalmoplegia
• Pupillary light-near dissociation
• Pigmentary retinopathy
• Optic atrophy

Neurofibromatosis Type 1

≳2 of the following is diagnostic:

Ocular

• Optic glioma
  • Slow growing tumour of the optic nerve which causes fusiform enlargement, resulting in globe proptosis and an afferent pupillary defect
  • Optic nerve may be swollen (or atrophic later)
  • 30% have associated NF1
• ≳2 Lisch nodules
  • Bilateral yellow or brown dome-shaped nodules
  • Develop during 2nd-3rd decades, eventually present in 95% of cases

Lisch nodules

Optic glioma

Others

• ≳6 cafe-au-lait macules
• ≳2 neurofibromas of any type, or one plexiform neurofibroma