Screening children with NF1 for optic pathway glioma – Yes

Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome

“…Fifteen percent occurrence in our series is in agreement with the range of 1.5-24% in other series of OPGs, 24,25 implying that OPG is no more common in OFNF than in NF1, with predominant manifestation outside the head and face. Similar to previous reports, 12,18,19 most of our patients with OPG presented with decreased VA and/or proptosis, and neuroimaging generally revealed thickening and/or tortuosity of the optic nerve or chiasm. Biopsy was not undertaken, as the diagnosis of OPG was made by neuroimaging.…”

“…16 Finally, high-resolution neuroimaging of the optic nerves and chiasm is the most reliable way to make the diagnosis of OPG. 18,19 Similarly to previous studies, 10 the most common surgical procedures performed in our series were related to ptosis and lid involvement. The primary indications for lid surgery in OFNF were functional, with the goal of uncovering an obscured visual axis to prevent amblyopia in visually immature children (Figures 1 and 3).…”

Question 1: Should a child with neurofibromatosis type 1 be screened for central nervous system tumours with neuroimaging?

“…They do not have malignant potential themselves but they exert their symptoms by compression, and as a result it has been argued that chemotherapy and radiotherapy are therefore not indicated 7. However, about a third of these tumours grow and cause clinical symptoms including visual loss and precocious puberty4: these tumours can be treated with chemotherapy resulting in stabilisation of the disease 8…”

Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1

“…If there are no 'normal' data for visual development in children with NF1, how are we to define the 'reduced vision' that is 'highly predictive of OPG'? 1 Perhaps what we should all be working towards is 'developmentally appropriate screening' and use the ongoing national project to collect the 'normal' data we need, so that we may be better informed when making the next round of recommendations.…”