Orbital optic nerve gliomas in children with neurofibromatosis type 1

Optic nerve sheath fenestration for an isolated optic nerve glioma

“…5 In a series of children with NF1 and orbital optic nerve gliomas, no patient who received chemotherapy demonstrated an improvement in vision, even those with documented progression. 2 However, Dalla Via et al 6 found that 20% of patients with optic pathway gliomas showed some improvement in visual function with these therapies, whereas the treatment was unsatisfactory in the rest of the patients. In our case, both chemotherapy and radiotherapy were offered as options by the oncology team; however, the parents were not willing to accept the risks of systemic chemotherapy or radiation of the orbit.…”

“…Frequently they are asymptomatic, but sometimes they grow rapidly, causing considerable visual dysfunction, neurologic deficits, and endocrine disturbances. [1][2][3][4] The options for treating progressive gliomas are chemotherapy, radiation therapy, or surgical resection. 1 Tumor location plays a role in the treatment choice, but each comes with some associated risk that must be weighed against the benefits.…”

Diagnosis and management of optic nerve glioma

“…2,3,23 Several studies have shown that proptosis is a prominent presenting feature of NF1-associated optic nerve glioma, particularly in patients younger than six years of age. 8,[24][25][26] Ocular pain is not usually a presenting feature; however, there is one report of a child presenting with painful rapidly progressive visual loss similar to that of optic neuritis. 27 Patients with optic nerve gliomas may occasionally develop a central retinal vein occlusion, venous stasis retinopathy, iris rubeosis with neovascular glaucoma or ocular ischaemic syndrome 2,6,9 although this is more commonly associated with malignant optic nerve gliomas of adulthood.…”

Neurofibromatose tipo I

“…The diagnosis of neurofibromatosis type 1 should be done as early as possible through clinical examination and family history. (4) In our case, the patient has a strong family history with a maternal grandmother and mother diagnosed with NF1 and a sister under investigation for the disease.…”