ArticleEye and brain2020
Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies.
Article in Eye and brain, 2020. 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, 10 citations in OpenAlex.
- Uveal and retinal abnormalities in an Asian neurofibromatosis type 1 cohort: a cross-sectional study with age-stratified analysis.Eye and vision (London, England) · 2026Article
- Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.BMC pediatrics · 2025Review
- Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1.International journal of molecular sciences · 2023Review
- An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.Orphanet journal of rare diseases · 2022Article
- Neuroretinal dysfunction in patients affected by neurofibromatosis type 1.International journal of ophthalmology · 2022Article
- What can visual electrophysiology tell about possible visual-field defects in paediatric patients.Eye (London, England) · 2021Review
- Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I.Orphanet journal of rare diseases · 2021Article
- Case Report: Chemotherapy Indication in a Case of Neurofibromatosis Type 1 Presenting Optic Pathway Glioma: A One-Year Clinical Case Study Using Differential Tractography Approach.Frontiers in human neuroscience · 2021Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNeurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of PURPOSE: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient.
methodsThe study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT).
resultsNF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT).
conclusionThe present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1.
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