Abstract
Purpose:
Optic pathway gliomas (OPGs) are low-grade tumors of childhood that have a high survival rate but can cause significant visual impairment. While commonly associated with Neurofibromatosis Type 1 (NF1), non-NF1-related OPGs have been reported to cause more visual disability, but long-term data are limited. The purpose of this study was to report the long-term visual outcomes of a cohort of pediatric patients with non-NF1-related OPGs.
Methods:
This was a retrospective cohort study at a tertiary care pediatric hospital and cancer institute. The study included all patients with non-NF1-related OPGs seen between 1995-2013. The clinical features at presentation, tumor location, type of treatment, evidence of progression during treatment or recurrence after treatment, and the results of all visual assessments were recorded. The primary outcome was visual acuity at final follow-up.
Results:
There were a total of 61 patients with non-NF1-related OPGs. The most common presenting features were vision loss (26%), nystagmus (26%), neurological findings (23%), strabismus (13%) and headache (12%). The median age of onset was 2.6 years old and 52 cases (85%) presented with bilateral involvement. Fifty-four patients (89%) received treatment; the most common treatment was chemotherapy and surgery (44%), followed by chemotherapy alone (39%) and surgery alone (5%). Fifteen patients (28%) showed progression during treatment requiring a change in therapy and 29 patients (54%) had evidence of recurrence after completion of initial therapy. Of the 54 patients who received treatment, 18 (33%) did not have evidence of progression or recurrence. The median follow-up interval was 5.1 years after presentation. In the worse eye at final follow-up, 18 patients (30%) were ≥ 20/30, 9 patients (15%) were between 20/40-20/80, and 34 patients (56%) were ≤ 20/100. In the better eye at final follow-up, 35 patients (57%) were ≥ 20/30, 11 patients (18%) were between 20/40-20/80, and 15 patients (25%) were ≤ 20/100.
Conclusions:
In this cohort of pediatric patients with non-NF1-related OPGs, the long-term visual outcomes were poor, with severe visual deficits in over half of the patients at last follow-up. Even with treatment, the majority of patients had evidence of either progression or recurrence. Frequent visual assessments for patients with non-NF1-related OPSs, both during treatment and afterward, are crucial to minimize long-term visual impairment.