Retinal Detachment in the Setting of Neurofibromatosis Type 1
Bibliographic record
Abstract
Purpose: Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous syndrome that includes ocular manifestations. This systematic literature review aimed to examine evidence of an association between NF1 and retinal detachment (RD). Methods: Ovid MEDLINE, EMBASE, and PubMed were searched from database inception to February 2024 for reports of RD related to NF1. An additional case of spontaneous RD in a young patient with NF1 is reported. Results: In total, 27 reported cases of NF1-associated RD were identified, of which 14 were associated with intraocular or intraorbital space-occupying lesions. Lesion-associated RDs were exudative and presented in patients at a median age of 19.6 years (range 10 to 36 years). The remaining 13 cases, and the novel case reported herein of a patient with RD secondary to a giant retinal tear, were spontaneous rhegmatogenous RD, presenting in patients at a median age of 19.1 years (range 22 months to 49 years). The most common presentation of spontaneous RD was an asymptomatic finding on routine exam (55% of reported cases). Conclusions: NF1 may increase the risk of RD through 2 mechanisms: exudation caused by space-occupying intraorbital lesions, or rhegmatogenous RD resulting from irregularities in vitreoretinal adhesion due to abnormal collagen production. While further evidence is needed, extended ocular screening of patients with NF1 into adulthood may be considered.
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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 | 0.008 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.005 | 0.005 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".