<i>DYRK1A</i> syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype
Bibliographic record
Abstract
INTRODUCTION: The DYRK1A gene plays a crucial role in central nervous system development, with haploinsufficiency leading to DYRK1A-related intellectual disability syndrome. Ocular manifestations are common in DYRK1A syndrome and include refractive error, strabismus and optic nerve hypoplasia. Retinal involvement, however is less frequently reported and remains uncharacterised. METHODS: We conducted comprehensive ocular and systemic evaluations in two unrelated individuals with familial exudative vitreoretinopathy (FEVR)-like presentations and de novo DYRK1A variants. Genetic testing included whole genome sequencing with variant interpretation based on clinical guidelines. RESULTS: Patient 1 had a previously reported recurrent pathogenic DYRK1A variant [c.1282C>T; p.(Arg428Ter)], whilst Patient 2 had a novel missense likely pathogenic variant [c.857T>C; p.(Leu286Pro)]. Both patients demonstrated systemic features consistent with DYRK1A syndrome. DISCUSSION: These cases confirm vitreoretinal involvement as an associated finding in DYRK1A syndrome and highlight FEVR-like retinovascular abnormalities as a potential diagnostic clue for the condition in individuals with neurodevelopmental disorders.
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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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 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".