Leber Hereditary Optic Neuropathy: Visual Prognosis
Bibliographic record
Abstract
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease which presents as a bilateral, sequential and painless central loss of vision. Around 90% of the cases are caused by 3 mutations: m.11778G>A (MT-ND4) (52-92% of cases), m.14484T>C (MT-ND6) (3-19% of cases) and m.3460G>A (MT-ND1) (1-33% of cases). Visual recovery is influenced by the mutation type involved. LHON can also be associated with cardiac and neurological manifestations. M.14484T>C (MT-ND6) is found only in 15% to 25% of cases worldwide but is responsible for 86% of all cases of LHON in French Canadian descendants. The goal of this retrospective study is to describe clinical ophthalmic and systemic manifestations, as well as the visual prognosis of LHON patients from Eastern Canada. Patient’s files were reviewed in two Montreal hospitals. We have found 23 patient’s files with a positive mutation for LHON. 87.0% had m.14484T>C (MT-ND6) and 13.0% had m.11778G>A (MT-ND4). No case of m.3460G>A (MT-ND1) was found in our patients. Visual recovery occurred in 23.7% of m.14484T>C (MT-ND6) and in 33.3% of m.11778G>A (MT-ND4). Final visual acuity varied from 20/20 to no light perception. Both cardiac and neurologic abnormalities were found. Our study confirms that m.14484T>C (MT-ND6) is the most prevalent in the province of Quebec, mostly inhabited by French Canadians. It is important to investigate these patients for cardiac and neurologic diseases, as both has been found in our patients.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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 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".