A Case Report of Unilateral OPA3-Related Dominant Optic Atrophy
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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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 | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.004 | 0.002 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.006 | 0.004 |
| Science and technology studies | 0.004 | 0.003 |
| Scholarly communication | 0.003 | 0.004 |
| Open science | 0.002 | 0.004 |
| Research integrity | 0.007 | 0.004 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".