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Orphanet Journal of Rare Diseases

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Open Access 01-12-2021 | Glioma | Research

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study

Authors: Anne Munk Henning, Mette Møller Handrup, Sia Mariann Kjeldsen, Dorte Ancher Larsen, Cecilie Ejerskov

Published in: Orphanet Journal of Rare Diseases | Issue 1/2021

Abstract

Background

Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment.

Method

We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG.

Results

Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex.

Conclusion

Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.

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Title: Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
Authors: Anne Munk Henning
Mette Møller Handrup
Sia Mariann Kjeldsen
Dorte Ancher Larsen
Cecilie Ejerskov
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Glioma
Magnetic Resonance Imaging
Magnetic Resonance Imaging
Glioma
Glioma
Neurofibromatosis Type 1
Published in: Orphanet Journal of Rare Diseases / Issue 1/2021
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-021-02121-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study

Abstract

Background

Method

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Method

Results

Conclusion

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