Early-Onset Hearing Loss in Leber’s Hereditary Optic Neuropathy: A Case Report
Bibliographic record
Abstract
Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial disorders that is characterized in young adults and teenagers as bilateral, painless, subacute visual failure. Extraocular manifestations include neurological and cardiac features. Sensorineural hearing loss (SNHL) has not been reported as a clinical feature of this disorder. We report a patient diagnosed with LHON having the common m.11778G>A; p. Arg340 pathogenic variant who was also diagnosed with bilateral mild-to-moderate high-frequency SNHL as a neonate through our provincial newborn screening program. Genetic workup, including a next-generation sequencing "Comprehensive Hereditary Hearing Loss Panel" for common and non-syndromic hearing loss and sequencing of the mitochondrial genome, was negative for a second pathogenic variant. The infectious workup was negative. Non-enhanced magnetic resonance imaging of the brain and internal auditory canal was normal. To our knowledge, SNHL has not been reported before as a clinical feature of patients diagnosed with LHON, and hence this rare and unusual presentation merits reporting.
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 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 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".