Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)
Bibliographic record
Abstract
PURPOSE: To highlight the striking similarities between the lesions of congenital toxoplasmosis (CT) and North Carolina Macular Dystrophy (NCMD) using multimodal imaging including spectral domain optical coherence tomography (SD-OCT). OBSERVATIONS: We are comparing a case report of CT compared to that of NCMD. The case of a 64-year-old man with a lifelong history of decreased vision OD from toxoplasmosis and new onset of central retinal vein occlusion OS. Color fundus photography, spectral domain optical coherence tomography (SD-OCT), and intravenous fluorescein angiography (IVFA) were used as diagnostic imaging tools to demonstrate the similarities and differences between CT and NCMD. In this case, unilateral CT demonstrated a large, excavated, coloboma-like chorioretinal lesion identical to NCMD grade 3. Serology studies were positive for toxoplasmosis. The similarities of CT and NCMD grade 3 using SD-OCT are especially striking. CONCLUSION AND IMPORTANCE: Lesions of CT and NCMD grade 3 can appear identical on clinical exam and are indistinguishable from one another on SD-OCT. Because CT is a phenocopy of NCMD, many cases of the original NCMD family members had been misdiagnosed as CT. North Carolina Macular Dystrophy may be more common than previously realized and bilateral CT cases should be reexamined along with family members and genetic testing performed. Cases of bilateral CT actually may be NCMD cases. Now that the genetic and molecular mechanisms of NCMD are known, these may provide clues into the pathogenesis of CT.
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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 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 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".