Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel <i>ZEB1</i> mutation
Bibliographic record
Abstract
PURPOSE: To describe the clinical phenotype in a family with posterior polymorphous corneal dystrophy (PPCD) and a novel mutation in the ZEB1 gene. METHODS: Clinical examination, anterior segment photography, specular microscopy and electrophysiological investigations were performed and quantified. Genomic DNA extracted from peripheral blood was sequenced for ZEB1 exons. Cosegregation of identified mutation with the disease status in the family was confirmed using polymerase chain reaction and restriction fragment length polymorphism. RESULTS: Ocular examination was performed on five family members from two generations. Three had anomalies of the corneal endothelium that were consistent with PPCD. Endothelial cell counts ranged from 2306 to 2987 mm(2) (ref. 2000-4000 cells/mm(2) ). No evidence of glaucoma or retinal abnormalities was observed. Extraocular abnormalities such as inguinal herniation, hydrocoele and possible bony or connective tissue anomalies were part of the disease spectrum in this family. Mutation analysis revealed a novel change in exon 5 of ZEB1 (c.672delA) that cosegregated with the affected disease status. CONCLUSION: The detailed clinical features of PPCD associated with a novel ZEB1 mutation are supportive of the previously proposed range of phenotype parameters. Further phenotype-genotype correlations may provide insights into the clinical variability and pathological processes affecting the corneal endothelium, Descemet's membrane, retinal photoreceptor function and extraocular tissues of some 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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| 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".