Differences in onset between eyes in patients with Leber's hereditary optic neuropathy (<scp>LHON</scp>)
Bibliographic record
Abstract
Purpose Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease characterized by a painless, subacute loss of central vision with over 95% of affected patients harbouring one of three mitochondrial DNA (mtDNA) classical point mutations (m.11778G>A, m.3460G>A and m.14484T>C). The purpose of this study was to compare the age of disease onset and time interval between affected eyes by mutation. Methods Age of onset, unilateral versus bilateral presentation, interval between the first and second eye, and the mtDNA mutation were retrieved from two separate database registries consisting of 268 Italian and 71 U.S. patients. Results Clinical data from 300 LHON patients with classical LHON mutations were evaluated (m.11778G>A, n = 216; m.3460G>A, n = 40; m.14484T>C, n = 44. Bilateral eye involvement was clinically documented in 99.4% of cases with 50.3% of all patients demonstrating sequential onset. In these latter cases the median inter‐eye delay was 12.8 weeks. Comparing the age of onset across mutation subtypes, the m.14484T>C mutation resulted in the lowest age at onset (19.2 ± 10.6 years) compared to m.11778G>A (25.8 ± 15.3 years) and m.3460G>A (20.9 ± 14.5 years) (p < 0.05). Interestingly, the m.14484T>C mutation exhibited more simultaneous than sequential onsets compared with the other two mutation subtypes (p < 0.001). Moreover, m.14484T>C showed a shorter and more reproducible interval between eyes (inter‐eye onset range = 1–44 weeks) versus m.11778G>A (range = 1–2016 weeks) and m.3460G>A (range = 2–816 weeks) for sequential presentations. Conclusions The m.14484T>C mutation, though least penetrant, manifested at an earlier age and resulted in a smaller inter‐eye delay interval range and higher incidence of simultaneous involvement compared to the other two classical mutations in LHON.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 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) | 0.002 | 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".