APR 10, 2017
This report by a multidisciplinary task force is the first consensus statement on clinical care guidelines for pediatric orbital-periorbital plexiform neurofibromas (OPPNs).
Children and adults with neurofibromatosis type 1 (NF1) may present with a variety of ophthalmologic conditions, including plexiform neurofibromas (PNs) that can result in significant vision loss, glaucoma, choroidal nodules and physical alterations such as proptosis, ptosis, and facial disfigurement. Management requires a multidisciplinary approach, but there are no agreed-upon criteria for when OPPNs require therapy or which treatment produces the best outcome.
The task force, composed of pediatric practitioners experienced in caring for children with OPPN, created the recommendations summarized below for proposed nomenclature, clinical examination frequency and indications for medical and surgical treatment.
- Uniform terminology for plexiform neurofibromas involving the eyelid, orbit, periorbital and/or facial structures should be adopted.
- As children are at highest risk for rapid growth of OPPNs before the age of 8 years, comprehensive ophthalmic evaluation is recommended every 6 months until visual maturity. After that, frequency of examination should be guided by the clinical course.
- Patients with PNs confined to the upper eyelid may not need to undergo neuroimaging. High-resolution MRI with and without contrast should be performed for patients with orbital, periorbital or facial involvement.
- Treatment for related ophthalmic issues, such as ptosis, lacrimal involvement or amblyopia, can be supportive. Early intervention is recommended for most presentations, with the exception of strabismus surgery due to a high risk of recurrence if performed too early while the causative PNs are still growing rapidly. Associated problems such as amblyopia and refractive error should be managed aggressively and surgery should be deferred until the tumor growth has stabilized, as clinically appropriate.
- Debulking surgery is more successful in older patients and adults. Younger patients have a high risk of recurrent progression and need for more surgery. Surgery may be indicated for the following:
- Visual decline
- Progressive tumor growth involving a vital structure
- Progressive disfigurement or functional decline
- Clinical trials using biologic agents (i.e., mitogen-activated protein kinase [MEK] inhibitors) are under way, but no definitive recommendations can be made at this time.
The next step of defining therapeutic “efficacy” will be more challenging as researches must satisfy industry and regulatory criteria for FDA approval while considering what is most beneficial to the patient.