Neurophthalomogical assessment in ARSACS syndrome
Bibliographic record
Abstract
Aims/Purpose: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is a neurodegenerative disorder, firstly documented in patients from Quebec, who manifest the early‐onset triad of ataxia, spasticity, and mixed sensorimotor peripheral neuropathy, accompanied by thickening of the retinal nerve fiber layer (RNFL) as observed on optical coherence tomography (OCT). Methods: To report ten cases of patients with molecularly confirmed ARSACS exhibiting abnormal thinning of the GCL in both eyes. The demographic and OCT analysis were described and discussed. All these patients underwent eye examinations, including best‐corrected visual acuity (BCVA), Ishihara test, Goldmann tonometry and computerized visual field assessment (Humphrey 30‐2, Zeiss). OCT (Triton, Topcon DRI) was used for evaluating RNFL and ganglion cell layer (GCL); a qualitative analysis of perifoveal scans was performed. Results: The ten patients included were 6 females and 4 males, aged between 30 and 40 years. All patients had a genetically confirmed diagnosis of ARSACS. In ophthalmological assessment, each patient showed a BCVA of 20/20 in both eyes, normal color vision and intraocular pressure. The visual field was unremarkable, except for one patient who exhibited a mild enlargement of the blind spot. In the OCT scans, all four patients exhibited a certain degree of foveal hypoplasia, with a reduction in the distance measured from the fovea to the optic disc center (FDD). They were also characterized by thickening of the RNFL. Notably, we initially observed a thinning of the ganglion cell layer (GCL) in the temporal sector. However, upon further investigation, we attributed this finding to a systematic error linked to the reduced FDD. Manual re‐centering of the fovea in the OCT scans revealed normal GCL thickness in all examined patients. Conclusions: Foveal hypoplasia, reduced FDD, and thickening of the RNFL are known characteristics of patients affected by ARSACS, along with optimal BCVA and almost absence of visual field defects. These findings emphasize the importance of a meticulous image analysis and interpretation in characterize retinal changes in ARSACS patients and highlight the potential impact of imaging technique nuances on diagnostic assessments.
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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 | 0.001 |
| 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) | 0.001 | 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".