1 M/O Female with Right Globe Agenesis. Dysmorphic Left Glob | Figure 1

1. M/O Female with Right Globe Agenesis. Dysmorphic Left Globe. Congenital absence of Optic Nerves, Optic Chiari and Optic Tracts.

Case Details

1. Neurofibromatosis type 1 (NF 1)

   This patient has Neurofibromatosis type 1 (NF 1) with extensive lumbar and sacral neurofibromas extending through the neural foramina and into the adjacent paraspinal soft tissues. Optic pathway gliomas are an associated orbital feature, as are plexiform neurofibromas involving the orbit, Lisch nodules (iris hamartomas), buphthalmos or large globes, and tortuosity and ectasia of the optic nerve sheaths. Skin findings in NF 1 may include café au lait spots (hyperpigmented lesions) and inguinal and axillary freckling.

2. Orbital floor blowout/globe rupture

   pt was assaulted and hit one time on the side of his face - resulting in an orbital floor blow out/globe rupture/optic nerve tenting - underwent emergent canthotomy - eventually OR once swelling goes down. On arrival patient was able to see out of eye - pupils reactive - within 2 minutes unable to see and pupil fixed.

3. Optic pathway gliomas

   Coronal (image 1) and axial (image 2) T2-W images show a mass (arrow) arising from the optic chiasm. Optic pathway gliomas are more common in children and are associated with neurofibromatosis type 1. The tumor can affect any portion of the optic pathway. Approximately a third of optic pathway gliomas primarily involve the optic chiasm.

4. Septo-optic dysplasia

   Coronal T2 (image 1), axial T2 (image 2), and axial FIESTA (image 3) MRI show multiple findings indicative of septo-optic dysplasia: the optic chiasm (arrow) is undersized, the septum pellucidum is absent, and the optic nerves (arrowhead) are slightly hypoplastic. Septo-optic dysplasia, which may be linked to maternal diabetes, drug and alcohol use, or cytomegalovirus infection, is considered part of the holoprosencephaly spectrum and can be associated with other neural migrational disorders.