Orbit deformities in craniofacial neurofibromatosis type 1

Area of Science:

• Medical imaging
• Genetics
• Craniofacial surgery

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder.
• Orbital deformities are a known complication of NF1.
• The specific relationship between NF1-related orbital changes and plexiform neurofibromas (PNFs) requires further investigation.

Purpose of the Study:

• To review and characterize orbital changes in patients with craniofacial NF1.
• To elucidate the association between orbital deformities and PNFs in NF1.

Main Methods:

• Retrospective review of CT and MR imaging.
• Analysis of orbital abnormalities in 31 patients with craniofacial NF1.
• Age range of patients: 1-40 years.

Main Results:

• Orbital abnormalities were present in 24 out of 31 patients.
• Common findings included optic nerve gliomas (6 patients), orbital PNFs (20 patients), and posterior orbit distortion (13 patients).
• Progressive bony changes such as orbital rim enlargement, bone remodeling, and cranial foramina enlargement were associated with PNFs.

Conclusions:

• Bony orbital deformity is frequent in craniofacial NF1, consistently associated with optic nerve gliomas or orbital PNFs.
• PNFs contribute to orbital bone changes through expansion, erosion, and foramina enlargement.
• These findings support the concept of secondary dysplasia in NF1, where PNFs significantly impact craniofacial development.