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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. “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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  1. Pulsatile proptosis from sphenoid wing hypoplasia (neurofibromatosis) Emory Eye Center

  2. 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

  3. Neuro-Ophthalmic Examination • BP 104/68, HR 80 • VA sc 20/20 20/20 • Color vision 14/14 14/14 • Pupils Normal Normal • EOM Full Full • Fundus Normal Normal • HVF Normal Normal

  4. The right eye was pulsating • (VIDEO)

  5. Lisch Nodules

  6. 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

  7. Absence of sphenoid wing • Pulsatile • Exophthalmos • Enophthalmos • Herniation of dura, CSF, brain into orbit (encephalocele) • Compression EOMs, optic nerve

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