ReviewEuropean journal of pediatrics2013
Ophthalmological assessment of children with neurofibromatosis type 1.
Review in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 35 citations in OpenAlex.
- Article
- ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.EClinicalMedicine · 2023Review
- Neurofibromatosis: New Clinical Challenges in the Era of COVID-19.Biomedicines · 2022Review
- Review
- Article
- Acute Enophthalmos After Lumbar Puncture in a Patient with Type 1 Neurofibromatosis Related Sphenoid Wing Dysplasia.Neuro-ophthalmology (Aeolus Press) · 2022Article
- Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1.Frontiers in surgery · 2022Article
- Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study.Orphanet journal of rare diseases · 2021Article
- Visual function assessed by visually evoked potentials in optic pathway low-grade gliomas with and without neurofibromatosis type 1.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Optical coherence tomography as a marker of vision in children with optic pathway gliomas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Review
- An Update on the Ophthalmologic Features in the Phakomatoses.Journal of ophthalmology · 2016Review
- Ophthalmological assessment of children with neurofibromatosis type 1.European journal of pediatrics · 2014Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder, caused by mutations in the NF1 gene, located on chromosome band 17q11.2. In 1988, the National Institutes of Health created specific criteria for the diagnosis of NF1. Four cardinal criteria are assessed through ophthalmological screening: Lisch nodules, optic pathway glioma, a distinctive osseous lesion (sphenoid dysplasia), and the (orbital) plexiform neurofibroma. NF1 patients are prone to the development of central and peripheral nervous system tumors. Especially young children are at risk for growing optic pathway gliomas that can threaten their sight. From an early age, children with NF1 undergo regular ophthalmological examinations. Little is known about the natural progress of these clinical features and the guidelines for screening and follow-up are controversial. Several questions remain unanswered.
conclusionMost of these questions could be solved by better understanding of the natural history of optic pathway gliomas. There is a tendency towards using vision as a primary objective in clinical treatment trials; this way we can evaluate new treatment strategies and focus specifically on visual evolution so we will be able to select even more carefully which patient would benefit treatment. For future clinical trials, a standardized visual acuity assessment protocol is therefore mandatory.
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