Long‐term visual outcomes in patients with orbitotemporal neurofibromatosis

Abstract

The first series of orbitotemporal neurofibromatosis to focus on visual outcomes was presented. Vision loss is common, with a high prevalence of amblyopia. Close monitoring from an early age is needed to prevent visual impairment.

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

“…4 While most cases of NF1-related vision loss are secondary to optic pathway gliomas, PNs of the orbit and face frequently cause vision loss secondary to deprivational or anisometropic amblyopia as well as glaucoma. 5-8 Equally important is the alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem.…”

“…PNs can result in substantial morbidity due to their appearance and proclivity to cause functional and neurologic deficits, and are at risk for malignant transformation. 2 PNs involving the eyelid, orbit, periorbital and facial structures have been described using a variety of names including orbitotemporal PNs, 7, 9 orbitopalpebral neurofibromatosis, 10, 11 orbitotemporal neurofibromatosis, 5, 12-14 orbital neurofibromas, 15 and orbitofacial neurofibromatosis. 8, 16 PNs in these areas are most appropriately labeled as orbital-periorbital PN (OPPN) to encompass all locations where they occur.…”

“…5, 8, 54-56 Strabismus may develop from mechanical restriction of the globe by tumor infiltration or compression of orbital tissues and extraocular muscles, by globe displacement from increased axial length, and globe displacement secondary to orbital and sphenoid wing dysplasia. 10, 55 Further, in the setting of severe vision loss, a sensory strabismus may also develop.…”

“…Although the data are limited, strabismic amblyopia occurs less frequently than refractive amblyopia; vision loss from strabismus has been documented to account for 10-22% of vision loss associated with OPPNs. 5, 7, 8 The management of strabismus in these children is complex and no studies exist to support early versus late surgical treatment of strabismus. Rather, the provider should focus on non-surgical treatment for strabismic amblyopia, including correcting any induced refractive error, conventional occlusion therapy with patching or atropine penalization, and consideration of prisms for smaller angle eye misalignment.…”