Longitudinal clinical characteristics of patients with neurofibromatosis type 1
Bibliographic record
Abstract
PURPOSE: This study reports on longitudinal clinical characteristics of patients with neurofibromatosis type 1 (NF1) treated at the Department of Ophthalmology of the Medical University of Vienna. METHODS: This retrospective study included children with a genetically proven diagnosis of NF1. Clinical characteristics and outcomes, including best-corrected visual acuity (BCVA), refractive error, ocular motility, specific ophthalmological findings (e.g., Lisch nodules), and the presence of cutaneous café au lait stains were evaluated. Optical coherence tomography (OCT) and magnetic resonance imaging (MRI) were obtained to evaluate optic nerve abnormalities and early detection of optic glioma. RESULTS: One hundred and sixty-eight eyes of 85 children were included. The mean follow-up of the patients was 8 ± 3.7 years (range: 2-19 years) and mean age at baseline was 3.1 ± 2.6 years. Mean (±SD) BCVA was 0.19 (±0.20) logMAR at baseline. 16.5% of patients showed the presence of optic nerve abnormalities, 18.8% had therapy, 32.9% of the patients had cafe au lait stains, and 37.1% had Lisch nodules in the eye examination. Worse BCVA at baseline was associated with the presence of severe optic nerve abnormalities (mean 0.21 ± 0.14 logMAR; p < 0.01), compared to patients without optic nerve abnormalities (mean 0.14 ± 0.14 logMAR). Additionally, BCVA at baseline was dependent on the visual test (from mean 0.04 ± 0.19 logMAR to mean 0.3 ± 0.16 logMAR; p < 0.01). There was also a significant difference in BCVA change to follow-up in patients who received therapy compared to patients who did not (p = 0.033). The age showed no significant influence on the BCVA at baseline (p = 0.92). CONCLUSIONS: Optic nerve glioma poses a significant threat to vision in NF1 patients, necessitating biannual follow-up until age 6, including MRI, fundoscopy, and OCT imaging.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".