Unilateral maculopathy associated with autosomal dominant bestrophinopathy
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.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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".