ArticleOrphanet journal of rare diseases2021
Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.World journal of pediatrics : WJP · 2026Article
- Selumetinib as a Target Therapy in Progressive Paediatric Low-Grade Gliomas-Case Series (pLGG).Journal of paediatrics and child health · 2026Article
- Clinical application of diffusion tensor tractography in classification of pediatric optic chiasmatic gliomas: a retrospective cohort study.Frontiers in pediatrics · 2026Article
- Consensus on Malignant and Benign Tumors in Pediatric Patients with Neurofibromatosis Type 1: On Behalf of the Brazilian Society of Pediatric Oncology (SOBOPE).Current oncology (Toronto, Ont.) · 2025Article
- Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1.JID innovations : skin science from molecules to population health · 2025Review
- Low-grade glioma in children with neurofibromatosis type 1: surveillance, treatment indications, management, and future directions.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications.Journal of the ASEAN Federation of Endocrine Societies · 2023Article
- Surgical Management of Pre-Chiasmatic Intraorbital Optic Nerve Gliomas in Children after Loss of Visual Function-Resection from Bulbus to Chiasm.Children (Basel, Switzerland) · 2022Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLow-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.
methodWe 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.
resultsOf 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.
conclusionOur 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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