#CC-Paper-01 Novel ocular imaging findings in Mucopolysaccharidosis II
Bibliographic record
Abstract
Background Ocular involvement occurs in Mucopolysaccharidosis Type II (MPS II; Hunter syndrome). We report findings from imaging and electrophysiology, including novel imaging findings from optical coherence tomography (OCT).Methods A 22 year old male underwent detailed ocular phenotyping, including ultra-widefield pseudocolour and autofluorescence imaging, spectral domain OCT and electroretinogram (ERG) recording. He had been diagnosed with MPS II aged 5 and reported intermittent blurring of vision over the last 2 years.Results Fundal examination showed discrete pale lesions extending vertically, above and below the optic disc. Autofluorescence revealed concentric hyperautofluorescent rings. OCT showed macular oedema and paracentral outer retinal loss. OCT over the pale lesions showed these were inward scleral protrusions or thickening. ERGs showed generalised rod more than cone system dysfunction with a negative waveform to the dark-adapted bright flash.Conclusions Several findings are consistent with prior reports. Here, we were able to confirm, using OCT, that the pale lesions were scleral. The negative ERG waveform may reflect dark-adapted cone system responses.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.007 | 0.001 |
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".