<i>OTX2</i>mutation associated with severe myopia in a Canadian family
Bibliographic record
Abstract
Purpose To describe a case of high myopia in a pediatric patient with a mutation in the OTX2 gene and further characterize the diverse ocular phenotypes of heterozygous OTX2 mutations.Patient and Methods We describe a three-year-old girl who presented at two months old with abnormal eye movements and suspected retinal dystrophy. Clinical exam and electroretinography (ERG) were conducted, and molecular next generation sequencing (NGS) with the Inherited Retinal Dystrophies panel was completed in our patient and offered to the family.Results Further examination revealed progressive high myopia in our patient and her mother, alongside diffuse retinal thinning and normal ERG. NGS identified a likely pathogenic variant in the OTX2 gene (c.235 G > A) that was maternal in origin. There were no extra-ocular concerns in our patient, and brain MRI was normal.Conclusions While OTX2 mutations are known to cause retinopathy, this case presents a unique phenotype through a heterozygous missense variant (c.235 G > A) underlying high myopia in a three-generation family. This case further supports the role of OTX2 in ocular development and demonstrates the variable expressivity of OTX2 mutations. Genetic testing in families with high myopia may be useful in future surveillance and preparation for ocular and extra-ocular complications associated with OTX2-syndrome presentations.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.004 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".