SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization
Bibliographic record
Abstract
PURPOSE: To analyze the clinical spectrum and natural history of SNRNP200-associated retinopathy. DESIGN: Multicenter retrospective, observational cohort study. PATIENTS: Molecularly confirmed patients with at least 1 disease-causing variant in SNRNP200. METHODS: Clinical data was extracted from the physical and electronic records, including imaging and electrophysiology. Genetic results were reviewed, and the variants assessed. MAIN OUTCOME MEASURES: Molecular genetic testing and clinical findings, including best-corrected visual acuity (BCVA), qualitative and quantitative analysis of retinal imaging, and electrophysiology. RESULTS: Thirty-four patients from 4 countries were identified and assessed longitudinally. The median age was 36.0 years (IQR 27.5-43.5), with a median follow-up of 6.0 years (IQR 2-9.5). Median BCVA was 0.0 LogMAR (IQR 0.0-0.27) at baseline and 0.1 LogMAR (0.0-0.47) at follow-up, with an annual rate of decline of 0.021 LogMAR. The median ellipsoid zone width was 3013.5 µm (IQR 1948.7-3592.2) at baseline and 2400.1 µm (IQR 1136.75-3097.2) at follow-up, with a rate of decline of 21.9 µm/year. Detailed electrophysiology was available for 11 patients, all of whom showed a rod-cone dystrophy with largely preserved macular function in the majority of cases. Genetic analysis identified 21 variants in SNRNP200, including 11 novel variants. CONCLUSIONS: This report represents the largest cohort of patients with SNRNP200-associated retinopathy, with the longest follow-up. Longitudinal analysis shows a preserved central retina until the 6th decade of life. These findings provide critical insights for patient counselling, identifying clinical endpoints, and guiding therapeutic development.
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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 | 0.000 |
| 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".