Enrico Opocher

Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program

We evaluated the visual outcome of a cohort of children with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG) treated according to standardized therapeutic guidelines. The study population consisted of all consecutive patients with NF1 and OPG referred to a specialized pediatric neuro-oncology program between 1994 and 2004. Treatment was instituted only in cases of progressive disease or clinical deterioration. Treatment modalities were chemotherapy (based on vincristine/carboplatin) for children younger than 5 years and radiotherapy for all others. Ten boys and 10 girls (seven with a positive family history) entered the trial (median age at diagnosis of OPG, 29 months). At a median follow-up time of 78 months, seven patients had been treated with chemotherapy only, four with radiotherapy, and four with chemotherapy plus radiotherapy. Five patients were observed only. Currently, 18 are alive and two have died. Eight patients were treated for progressive visual loss in the face of stable disease, five for tumor volume increase without visual deterioration, and two for symptomatic tumor volume increase. At referral, six children had a visual acuity (VA) of < 30% in both eyes; eight children had 100% VA bilaterally. At referral, the visual field (VF) could be assessed in three children: One had VF loss in both eyes, one had VF loss in one eye, and one had normal VF. At last follow-up, eight children had VA < 20% in both eyes; only two children had 100% VA in both eyes. Among 11 children who had some visual function, three had VF loss in one eye and three in both eyes, and five had an intact VF. Contrast and color sensitivity were abnormal in seven and six patients, respectively. Thirteen children fell into the WHO hypovision category. In summary, among the 15 children treated, one had a definitive and two a mild improvement in VA. In conclusion, the visual outcome of this selected cohort of NF1 patients with OPG is unsatisfactory. A critical reappraisal of the therapeutic strategy adopted is needed.

Optic pathway glioma: Long-term visual outcome in children without neurofibromatosis type-1†

Little is known about the visual outcome of children affected by an optic pathway glioma (OPG).

Optic, hypothalamic, and thalamic tumors.

Abstract Optic, hypothalamic, and thalamic tumors represent a distinctive group of cerebral neoplasms, mostly characteristic of the pediatric age group. Histologically, the vast majority of these neoplasms are pilocytic astrocytomas, more rarely fibrillary astrocytomas. The association between optic pathway glioma (OPG) and neurofibromatosis type 1 (NF1) is a well-known phenomenon. The clinical diagnosis of OPG relays on magnetic resonance imaging. The clinical behavior of OPGs is unpredictable. The vast majority are indolent tumors, particularly in the NF1 population. Surgery may be considered for exophytic OPGs, causing obstructive hydrocephalus or symptomatic mass effect on the neighboring brain structures. After partial resection, long-term tumor stabilization has been reported. Chemotherapy has a definitive role in delaying OPG growth. It does not seem to represent a curative treatment, but is used to delay the need for more deleterious treatments, such as high-dose radiotherapy. External-beam radiotherapy remains the curative treatment; the sophisticated techniques of three-dimensional planning, such as intensity-modulated X-ray therapy which allows a significant amount of normal brain parenchyma to be spared, makes the use of this treatment modality in children much more ‘friendly’. Despite modern advances, concerns regarding the potential severe side-effects on the developing brain in patients with a long life expectancy, such as endocrinopathy, developmental abnormalities, neurocognitive dysfunction, and vasculopathy, makes it a second-line therapy after chemotherapy. There is a subgroup of children with OPG, with or without NF1, who are at high risk of suffering of progressive deterioration of vision, leading to blindness despite any therapy.

Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma

To evaluate peripapillary retinal nerve fibre layer (RNFL) thickness, measured by spectral‐domain optical coherence tomography (SD‐OCT), as a surrogate of visual function in a population of paediatric patients affected by optic pathway glioma (OPG) associated with neurofibromatosis type 1 (NF1).