Novel Corneal Phenotype in a Patient With Alport Syndrome
Bibliographic record
Abstract
PURPOSE: To report the clinical and histopathologic findings of an unusual keratopathy, which may represent a new corneal dystrophy in a patient with Alport syndrome (ATS). METHODS: A 59-year-old woman with longstanding diagnosis of autosomal recessive ATS was evaluated for progressively decreasing vision in the left eye. She had anterior lenticonus and cataract and central corneal stromal opacification with significant thinning and flattening bilaterally. She underwent penetrating keratoplasty and cataract extraction with posterior chamber intraocular lens implantation. We describe the light microscopic and ultrastructural findings from the cornea. RESULTS: Histopathology of the corneal button revealed marked stromal thinning with decreased keratocytes. The endothelial cells were attenuated and focally lost. Immunohistochemical stains for cytokeratin were positive, findings consistent with posterior polymorphous dystrophy (PPMD). Transmission electron microscopy showed necrosis and a marked loss of keratocytes. Multilayering of the endothelium was consistent with PPMD, but mature desmosomes and microvilli were absent. In vivo confocal microscopy on the fellow eye showed linear hyporeflective bands at the level of Descemet's membrane consistent with PPMD. In addition, there were fine linear changes in the deep stroma and diffuse hyperreflectivity of the mid and superficial stroma with lack of identifiable keratocytes throughout. CONCLUSIONS: We believe this to be the first reported case to demonstrate some histopathologic features of PPMD in ATS. However, the clinical, histopathologic, and ultrastructural characteristics are not typical of PPMD. This may represent a new phenotypic expression of PPMD or may be a distinct clinicopathologic dystrophy associated with ATS.
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 | 0.000 | 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".