Congenital Corneal Opacities Associated With Trisomy 8 Mosaicism Syndrome
Bibliographic record
Abstract
PURPOSE: To describe the clinical, anterior segment optical coherence tomography (OCT) and histopathological features of 2 infants with congenital corneal opacities (CCOs) and undiagnosed trisomy 8 mosaicism syndrome (T8mS). METHODS: This is a retrospective case report documenting ocular and systemic findings, imaging, pathology and management of 2 patients with T8mS. RESULTS: An 11-month-old white male infant and a 4-week-old Asian female were initially seen for unilateral and bilateral CCOs, respectively. Corneal examination revealed para-axial anterior stromal opacities with blood vessels. Superficial irregular opacities were seen on OCT, and specular microscopy revealed normal endothelial cell morphology. One eye required superficial keratectomy to clear the visual axis and developed steroid-induced glaucoma in the early postoperative period, successfully treated with goniotomy. Both patients had hyperopia, anisometropia, and amblyopia, which was managed with glasses and patching. Cytogenetic testing (through microarray and fluorescence in situ hybridization) later diagnosed T8mS in both cases. CONCLUSIONS: T8mS should be considered in the differential diagnosis for superficial CCOs with blood vessels. Anterior segment OCT can guide management and cytogenetics performed to confirm diagnosis. Systemic associations and, in particular, risk of acute myeloid leukemia and myelodysplastic syndromes warrant prompt diagnosis of this condition.
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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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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 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".