RETINAL DYSTROPHY ASSOCIATED WITH BIRT–HOGG–DUBÉ SYNDROME
Bibliographic record
Abstract
Purpose: Birt–Hogg–Dubé syndrome (BHDS) is an autosomal-dominant cancer syndrome characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax, and multifocal renal carcinomas. Ophthalmologic findings associated with BHDS include flecked chorioretinopathy, choroidal melanoma, iris melanocytosis, and eyelid fibrofolliculomas. We present the case of a retinal dystrophy associated with BHDS. Methods: Observational case report. Results: A 48-year-old woman was referred for poor night vision and peripheral visual field loss. She had a medical history of Birt–Hogg–Dubé syndrome, manifesting as multiple pulmonary cysts and atelectasis of both lungs. Best-corrected visual acuity was 20/25 both eyes. Posterior segment examination revealed significant vessel attenuation and peripheral retinopathy consistent with a retinal dystrophy. Conclusion: This case associates BHDS with retinal pigment epithelial changes and visual field defects. Patients with BHDS should undergo ophthalmologic examination as part of their care.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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 | 0.001 |
| 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".