Major article
Orbital optic nerve gliomas in children with neurofibromatosis type 1

https://doi.org/10.1016/j.jaapos.2006.03.014Get rights and content

Purpose

To describe the clinical course and treatment of symptomatic orbital optic nerve gliomas in children with neurofibromatosis type-1 (NF-1).

Methods

A retrospective review of the records of patients with NF-1 and symptomatic orbital optic nerve gliomas seen in a large multidisciplinary NF-1 clinic of a tertiary care children’s hospital. The main outcome measures included presenting symptoms and signs, ophthalmologic examination at diagnosis, the presence of progressive disease following diagnosis, type of therapy, and the reasons therapy was instituted.

Results

Twelve patients with symptomatic orbital optic nerve gliomas, all of which led to proptosis (eight girls, four boys), were identified. The mean age of diagnosis of NF-1 was 20 months; the mean age of diagnosis of the orbital optic nerve glioma was 26 months. At the time of diagnosis of the tumor, 10 of 12 patients (83%) had decreased visual acuity in the affected eye. Three patients underwent optic nerve resection; eight received chemotherapy, and one was observed without therapy. Of the eight children who received chemotherapy, progressive disease prior to treatment could be documented in only three; none of these eight children had a reproducible improvement in vision following chemotherapy. There was no demonstrable improvement in vision in any treated patient with NF-1-associated orbital optic nerve gliomas.

Conclusions

Although not definitively proven, our data and previous studies suggest that NF-1-associated orbital optic nerve gliomas should not be treated unless there is clear evidence of either ophthalmologic or radiographic progression. Surgical excision of tumors which have led to proptotic eyes without functional vision should be reserved for cosmetic purposes or to treat complications of exposed globes.

Section snippets

Methods

NF-1 was confirmed in all patients on the basis of the diagnostic criteria established by the National Institutes of Health Consensus Development Conference.10 Patients were identified by compiling a list of all patients who had optic pathway tumors seen in the Neurofibromatosis Clinic of Children’s Memorial Hospital since 1985. All available records were reviewed to identify patients with symptomatic tumors at presentation or during the study period. This study was approved by the hospital’s

Results

The charts of 644 patients with NF-1 were reviewed. A total of 69 patients with optic pathway tumors were identified during the study period. Of those, 12 symptomatic orbital optic nerve gliomas were identified, all of which had led to proptosis (Table 1). There were eight girls and four boys. All were Caucasian. These 12 patients were diagnosed with NF-1 at an average age of 20 months. The tumors were discovered at an average age of 26 months. The rapid onset of proptosis led to the diagnosis

Discussion

Optic pathway tumors in patients with NF-1 and sporadic non-NF-1-associated optic pathway tumors have different biologic properties that distinguish their initial clinical manifestations and their natural history.12 Although both occur in very young children, sporadic tumors generally lead to extensive morbidity requiring treatment. In contrast, NF-1-associated tumors often have a period of rapid growth leading to decreased visual acuity or precocious puberty, after which tumor growth may

Acknowledgments

This work was supported in part by an unrestricted grant from Research to Prevent Blindness, NY (Northwestern University).

References (21)

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