Optic pathway gliomas in patients with neurofibromatosis type 1: Follow-up of 44 patients

Segal, Laura; Darvish-Zargar, Mahshad; Dilenge, Marie-Emmanuelle; Ortenberg, June; Polomeno, Robert C.

doi:10.1016/j.jaapos.2009.11.020

Cited by 75 publications

(37 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although not a universally consistent finding [15], posterior tumor involvement at presentation has been associated with poor visual outcomes in several studies [14,[16][17][18]. Younger age at diagnosis was identified as a risk factor by Fisher et al [16] and Thiagalingam et al [13] for NF1-associated OPGs.…”

Section: Chemotherapymentioning

confidence: 97%

“…Balcer et al [14] looked at 43 patients with NF1-associated OPGs and reported that 23 patients (53 %) had no evidence of vision loss after a median follow-up of 3 years. Segal et al [15] reported visual acuity outcomes for 44 patients with NF1-associated OPGs and found that only four patients (9 %) had significant OPG-related vision loss after a mean follow-up of 7 years. Finally, Fisher et al found that 72 % of children with NF1-associated OPGs had stable or improved vision after treatment with chemotherapy [16].…”

Section: Chemotherapymentioning

confidence: 99%

See 1 more Smart Citation

Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1

et al. 2016

View full text Add to dashboard Cite

Sporadic optic pathway gliomas (OPGs) have been reported to cause more vision loss than OPGs associated with neurofibromatosis type-1, but long-term visual outcome data are limited. The purpose of this study was to report the visual outcomes of a cohort of pediatric patients with sporadic OPGs. This was a retrospective, cohort study at a tertiary care pediatric hospital and cancer institute. The study included all patients with sporadic OPGs evaluated from 1990 to 2014. The primary outcome was visual acuity at final follow-up. Secondary outcomes were risk factors for a poor visual outcome and the rate of progression. There were 59 pediatric patients included in the study. Median age at presentation was 2.5 years old and median follow-up was 5.2 years. In the worse eye at final follow-up, 16 patients (27 %) were 20/30 or better, 9 patients (15 %) were between 20/40 and 20/80, and 34 patients (58 %) were 20/100 or worse. In the better eye at final follow-up, 33 patients (56 %) were 20/30 or better, 11 patients (19 %) were between 20/40 and 20/80, and 15 patients (25 %) were 20/100 or worse. Risk factors for a poor visual outcome included younger age at presentation, optic nerve pallor, and tumor extent. Of the 54 patients (92 %) who received treatment, 40 (74 %) experienced disease progression during or after treatment. A majority of pediatric patients with sporadic OPGs had significant long-term visual impairment. In spite of treatment, tumor progression is common. Serial ophthalmic examinations with quantitative vision measurements are essential in the management of sporadic OPGs.

show abstract

Section: Chemotherapymentioning

confidence: 97%

Section: Chemotherapymentioning

confidence: 99%

Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1

et al. 2016

View full text Add to dashboard Cite

show abstract

“…In particular, during the first 6 years of life, the risk of developing symptomatic tumours is high, with optic pathway glioma (OPG) being the most frequent neoplasm [3,4]. The frequency of OPG in NF-1 varies from 6.6 to 20% [5].…”

Section: Introductionmentioning

confidence: 99%

Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Bruzzi

Sani

Albanese³

2015

Horm Res Paediatr

View full text Add to dashboard Cite

Background: A total of 12 children with neurofibromatosis type 1 (NF-1) with optic pathway glioma (OPG) and growth hormone (GH) excess are reported to date, but no data exist on the long-term outcome. We describe 2 girls with NF-1 with OPG and GH excess treated with somatostatin analogue (SSa) who maintained a normal GH axis after stopping SSa therapy. Methods: The diagnosis ofGH excess was established from auxological data, persistently high levels of insulin-like growth factor 1 (IGF-1) and a lack of GH suppression during an oral glucose tolerance test. Results: Both patients were started on SSa treatment. During treatment, growth deceleration and normal IGF-1 levels were documented. The first case stopped treatment following the development of SSa side effects. The second case interrupted SSa when, closed to her final height, a normal IGF-1 level was documented. While off treatment, both cases maintained normal IGF-1 levels and appropriate growth velocity for their age and development, with normal GH secretion on biochemical testing. Both cases received treatment for central precocious puberty. Conclusion: GH excess in NF-1 children with OPG can be reversed and only short-term SSa therapy may be required. The aetiology remains undetermined, but the course suggests a hypothalamic dysfunction.

show abstract

“…1 Approximately 65% of these cases are detected in young children (less than 5 years of age), and one-third to one-half of these patients develop progressive disease. 4,5 OPGs show a highly variable and unpredictable growth pattern, ranging from indolent to rapidly progressive tumors, and may lead to visual loss, neurologic sequelae (hemiparesis, ataxia), hydrocephalus, macrocephaly, systemic signs (developmental delay, failure to thrive, diencephalic syndrome), and death. 1,4 Children with symptomatic OPG may have relevant ophthalmological abnormalities at the time of diagnosis (including marked visual impairment, abnormal pupillary function, optic nerve atrophy, and/or proptosis) due to early onset of the disease and related diagnostic difficulties.…”

mentioning

confidence: 99%

“…4,6 Moreover, tests that do not require patients' collaboration (e.g., pupillary reflex or optic disc evaluation [ODE]) allow only advanced cases to be theoretically detected because of the low sensitivity of the tests themselves. 1,[4][5][6] This study compared visual function assessment (VFA), ODE by indirect ophthalmoscopy, and retinal nerve fiber layer (RNFL) analysis by optical coherence tomography (OCT) as the diagnostic tools for OPG in pediatric patients (2-15 years of age) affected by NF-1. …”

mentioning

confidence: 99%

Optical Coherence Tomography in the Diagnosis of Optic Pathway Gliomas

Parrozzani

Clementi

Kotsafti

et al. 2013

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

PURPOSE. To compare visual function assessment, optic disc evaluation by indirect ophthalmoscopy, and retinal nerve fiber layer analysis by optical coherence tomography (OCT) for the screening of optic pathway gliomas in pediatric patients (2-15 years old) affected by neurofibromatosis type 1.METHODS. Fifty-seven consecutive patients with neurofibromatosis type 1 with recent (<6 months) orbital/brain magnetic resonance images (MRI) were included. Patients underwent visual function assessment (Hyvarinen symbols chart and/or Snellen charts) and optic disc evaluation by indirect ophthalmoscopy performed by experienced, masked pediatric ophthalmologists. Spectral domain OCT was performed to assess retinal nerve fiber layer. RESULTS.Fifteen of 57 enrolled patients (26%) were affected by MRI-proven optic pathway gliomas. Visual function assessment, optic disc evaluation, and retinal nerve fiber layer analysis by OCT were feasible in 84%, 95%, and 88% of patients, respectively. Visual function assessment, retinal nerve fiber layer analysis, and optic disc evaluation results correlated with the presence of optic pathway gliomas (P ¼ 0.007, P < 0.0001, and P ¼ 0.03, respectively). Specificity and negative predictive value of each test were statistically significant in detecting optic pathway glioma (P < 0.0001), whereas only retinal nerve fiber layers analysis reached statistically significant sensitivity and positive predictive value (P ¼ 0.0386). CONCLUSIONS.Retinal nerve fiber layer analysis assessment using spectral domain OCT is superior to visual function assessment and optic disc evaluation as a clinical screening tool for optic pathway gliomas.

show abstract

Optic pathway gliomas in patients with neurofibromatosis type 1: Follow-up of 44 patients

Cited by 75 publications

References 10 publications

Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1

Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1

Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Optical Coherence Tomography in the Diagnosis of Optic Pathway Gliomas

Contact Info

Product

Resources

About