Bilateral optic nerve glioma in a paediatric patient with neurofibromatosis type 1

Abstract

AbstractPurpose: To describe the presentation and management of gliomas of both optic nerves in a paediatric patient with neurofibromatosis type 1 (NF1).Methods: A 4‐year‐old female patient referred for ophthalmological evaluation due to a recent diagnosis of neurofibromatosis type 1. She presented better corrected visual acuity (BCVA) of 20/40 in both eyes (OU). Symmetrical and normoreactive pupils, normal extrinsic ocular motility, no proptosis or exophthalmos. In biomicroscopy Lisch nodules are observed in OU. Funduscopy of normal appearance except slight pallor of both optic papillae Refraction measurements with cycloplegia showed anisometropia: Right eye: +0.75–0.25 at 180°; Left eye: +1.75–2.75 at 170°. Stereopsis: 120 s of arc. Correction is prescribed and a follow‐up visit is scheduled. In subsequent visits we found a slight decrease in BCVA (20/50). In the Optical Coherence Tomography (OCT) we observed a clear decrease in the thickness of the retinal nerve fibre layer (RNFL) in the temporal sector. Visual campimetry and colour vision test cannot be performed Because of the patient's age. Due the clinical situation of decreased BCVA without justifiable cause in a patient with NF1, Magnetic Resonance Imaging of the brain and orbit is requested and a fusiform thickening of both optic nerves in their intraorbital portions with prolongation towards the optic chiasm is evidenced.Results: Due the clinical progression and deterioration on the RNFL OCT tests, an interconsultation with the Paediatric Oncology Department was made and it was decided to start systemic treatment with vinblastine.Conclusions: A complete ophthalmological examination adjusted to age is currently considered to be of choice in patients with NF1, being necessary annually until the age of 8 years and every 2 years until the age of 18. However, this examination in younger children, who are at greatest risk of developing gliomas, can be complex and requires experience.