Neurofibromatosis type 1 (orbital manifestations)

Last revised by Ali Hajihashemi on 30 Nov 2022

Citation, DOI, disclosures and article data

Citation:

Knipe H, Hajihashemi A, Elfeky M, et al. Neurofibromatosis type 1 (orbital manifestations). Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://doi.org/10.53347/rID-40749

DOI:

https://doi.org/10.53347/rID-40749

Permalink:

https://radiopaedia.org/articles/40749?iframe=true

rID:

40749

Article created:

1 Nov 2015, Henry Knipe ◉ ◈

Disclosures:

At the time the article was created Henry Knipe had no recorded disclosures.

View Henry Knipe's current disclosures

Last revised:

30 Nov 2022, Ali Hajihashemi

Disclosures:

At the time the article was last revised Ali Hajihashemi had no financial relationships to ineligible companies to disclose.

View Ali Hajihashemi's current disclosures

Revisions:

10 times, by 8 contributors - see full revision history and disclosures

Systems:

Central Nervous System, Head & Neck

Tags:

snippet title

Synonyms:

Neurofibromatosis type 1: orbital manifestations
NF1: orbital manifestations
Neurofibromatosis type 1: ophthalmic manifestations
Ophthalmic manifestations of NF1
Ophthalmic manifestations of neurofibromatosis type 1
Orbital manifestations of neurofibromatosis type 1

Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. Usually, only one orbit is affected, commonly associated with an ipsilateral extracranial disease.

Pathology

NF1 manifests in the orbit in the following ways ^1-5:

plexiform neurofibromas of the intra-orbital cranial nerves, optic nerve sheath and/or sclera
Lisch nodules: iris hamartomas
sphenoid wing dysplasia
- can results in herniation of middle cranial fossa contents into the orbit
- bare orbit sign may be present
- can cause pulsatile exophthalmos
congenital glaucoma
buphthalmos
- enlargement of the globe
optic nerve glioma

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