A Case Report of Unilateral OPA3-Related Dominant Optic Atrophy
Why this work is in the frame
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Bibliographic record
Abstract
Introduction: Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy characterized by progressive bilateral vision loss, cecocentral visual field (VF) defects, and retinal ganglion cell degeneration. Most cases are associated with OPA1 mutations, while OPA3-related DOA is rare and typically involves both eyes. To date, unilateral disease has not been reported. Case Presentation: A 33-year-old man presented with progressive, painless vision loss in the left eye. Best corrected visual acuity was 20/20 in the right eye and 20/30 in the left, with a left relative afferent pupillary defect and optic disc pallor. Optical coherence tomography revealed normal retinal nerve fiber layer thickness in the right eye and diffuse thinning in the left; VF testing showed a central scotoma in the left eye. MRI excluded compressive or inflammatory causes. Genetic testing identified a novel heterozygous OPA3 missense variant, c.199G>C, p.Val67Leu, not previously reported in population databases. Four years later, vision in the left eye had declined to 20/100 with persistent unilateral atrophy, while the right eye remained normal. Conclusion: This represents the first documented case of unilateral OPA3-related DOA, challenging the long-held view that DOA is inherently bilateral. Recognition of such atypical presentations may expand the clinical spectrum of OPA3-related disease and inform diagnostic and genetic counseling approaches for patients with unilateral optic neuropathy.
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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 | 0.001 | 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