Case Report: An Unusual Presentation of Leber's Hereditary Optic Neuropathy
Bibliographic record
Abstract
SIGNIFICANCE: Leber's hereditary optic neuropathy (LHON) is often associated with onset in the young, adult male demographic. This case report serves as a reminder that it can affect both sexes with onset into middle age. PURPOSE: Leber's hereditary optic neuropathy is a maternally inherited mitochondrial disorder that typically affects men during young adulthood. It presents with a rapid, yet painless loss of vision, with the fellow eye often affected within a few months. The optic neuropathy causes a dense central scotoma with visual acuities reduced to less than 20/400. CASE REPORT: A 60-year-old White woman presented with reports of decreased vision in both eyes for the previous 2 months. She had been followed up for the previous 5 years for glaucoma suspect monitoring, with full fields and normal optical coherence tomography scans. Entering visual acuity was finger counting at 1 m in the right eye and 20/100 in the left eye. Pupil testing revealed a grade 1 relative afferent pupillary defect in the right eye. Dilated fundus examination revealed stable moderate optic nerve cupping and intact neuroretinal rim tissue. Humphrey 24-2 Swedish Interactive Thresholding Algorithm standard visual field testing showed a significant superior altitudinal defect and inferior paracentral defect in the right eye and a partial superior arcuate in the left eye. The result of the MRI with contrast of the head and orbits was normal. A history of alcoholism was elicited, and LHON testing revealed positive 11778 mutation at homoplasmy. CONCLUSIONS: Although still uncommon, presentation of LHON in a middle-aged woman is possible and should be considered a viable differential diagnosis when individuals present with painless vision loss and central/centrocecal scotomas.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 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 | 0.000 |
| 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 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".