Bibliographic record
Abstract
PURPOSE: Anterior segment abnormalities associated with Noonan syndrome are rare. We report our experience with 2 patients who developed keratopathy with significant visual sequelae. METHODS: case series. RESULTS: The first patient is a 9-year-old boy with genetically confirmed Noonan syndrome. At presentation, he was noted to have diffuse inferior epitheliopathy with vascularization and bilateral mild ptosis. Over 1 year, he developed focal areas of scarring with deterioration of vision and underwent superficial keratectomy in the left eye. However, over the following 2 years, he experienced recurrent corneal scarring and vascularization. The second patient is a 7-year-old boy with phenotypic Noonan syndrome. At presentation, he had an anterior subepithelial corneal scar inferiorly with epithelial defects in both eyes. He also had bilateral moderate ptosis and lagophthalmos. Despite lubrication, he developed recurrent bilateral corneal erosions with focal areas of scarring associated with vascularization and underwent superficial keratectomy for both eyes. Despite this, there was worsening corneal scarring and vascularization over time, eventually requiring deep anterior lamellar keratoplasty in the left eye. The host cornea showed a disturbed Bowman layer and an acellular mass of fibrous collagenous tissue between epithelium and stroma. CONCLUSIONS: Noonan syndrome may be associated with visually significant keratopathy, manifesting as focal corneal scarring with vascularization. These changes may due to an excessive fibrotic response in Noonan syndrome. Early recognition and treatment can help to delay the progression of keratopathy and need for surgical intervention.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".