Successful treatment of bilateral familial iris flocculi associated with aortic valve abnormalities
Bibliographic record
Abstract
Purpose To report a case of familial iris flocculi in siblings associated with a possibly life-threatening aortic valve manifestation due to a smooth muscle alpha-actin 2 ( ACTA2 ) gene variant and demonstrate successful treatment of iris flocculi with laser. Observations Two biological siblings, a 21-year-old male and a 24-year-old female, both presented with bilateral iris flocculi. The flocculi were causing visual disturbances for both patients. Treatment was provided in the form of yttrium aluminum garnet (YAG) laser to the cysts and remained stable at 2 year follow up. Cardiac investigations were launched and the female patient demonstrated a bicuspid aortic valve with a mildly dilated ascending aorta. Cardiac investigations for the male patient were normal. Gene sequencing revealed a pathogenic variant in the ACTA2 gene. Conclusions and Importance Bilateral iris flocculi is a rare ocular condition that can demonstrate a familial component. Treatment of the cysts is required only when there are visual symptoms. We demonstrate successful long term treatment using Nd: YAG laser. There is a link between iris flocculi and a variant of ACTA2 and/or the smooth muscle ( MYH11 ) genes. Patients with iris flocculi should have careful cardiac assessment looking for aortic anomalies as well as gene sequencing. Family members should be made aware and investigated.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| 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".