Pulsatile proptosis from sphenoid wing hypoplasia neurofibromatosis
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Pulsatile proptosis from sphenoid wing hypoplasia (neurofibromatosis). Emory Eye Center. 50 yo RH W Woman. “My right eye has been moving for as long as I can remember” Good vision, no diplopia, no neurologic symptoms. Neuro-Ophthalmic Examination. BP 104/68, HR 80

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Pulsatile proptosis from sphenoid wing hypoplasia (neurofibromatosis)

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Pulsatile proptosis from sphenoid wing hypoplasia neurofibromatosis

Pulsatile proptosis from sphenoid wing hypoplasia (neurofibromatosis)

Emory Eye Center


50 yo rh w woman

50 yo RH W Woman

  • “My right eye has been moving for as long as I can remember”

    • Good vision, no diplopia, no neurologic symptoms


Neuro ophthalmic examination

Neuro-Ophthalmic Examination

  • BP 104/68, HR 80

  • VA sc 20/2020/20

  • Color vision 14/1414/14

  • Pupils NormalNormal

  • EOM FullFull

  • Fundus NormalNormal

  • HVF NormalNormal


The right eye was pulsating

The right eye was pulsating

  • (VIDEO)


Lisch nodules

Lisch Nodules


Neurofibromatosis 1

Neurofibromatosis 1

  • Café au laitmacules (>6)

  • Neurofibromas (>2)

  • Freckling (axillary, inguinal)

  • Optic gliomas

  • Lisch nodules (iris hamartomas)

  • Sphenoid dysplasia

  • First degree relative with NF-1


Absence of sphenoid wing

Absence of sphenoid wing

  • Pulsatile

    • Exophthalmos

    • Enophthalmos

  • Herniation of dura, CSF, brain into orbit (encephalocele)

    • Compression EOMs, optic nerve


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