Unilateral maculopathy associated with autosomal dominant bestrophinopathy
Why this work is in the frame
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Bibliographic record
Abstract
Purpose To describe the presentation of Best Vitelliform Macular Dystrophy (BVMD) as a unilateral maculopathy with bilateral retinal pigment epithelium (RPE) reduced function secondary to molecular changes or variants in BEST1 gene.Methods Retrospective case series.Results Both patients exhibited unilateral anatomical changes during fundus examination caused by pathogenic variants in BEST1. These changes were also evident in fundus autofluorescence (FAF) and optical coherence tomography (OCT) images. However, both patients displayed evidence of global RPE dysfunction, which was confirmed by a reduced light peak-to-dark trough amplitude ratio (LP: DT ratio) on the electrooculogram (EOG).Conclusion Autosomal dominant variants in the BEST1 gene can manifest as unilateral disease. In such cases, it is important to conduct genetic testing promptly to confirm the presence of bestrophinopathy. When counseling the patient, it is essential to discuss the potential for future anatomical involvement in the unaffected eye.
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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 it