“Blindness” is not a contraindication for voretigene neparvovec-rzyl treatment: a review of 9 cases
Bibliographic record
Abstract
OBJECTIVE: Biallelic RPE65 pathogenic variants may cause Leber congenital amaurosis (LCA). Voretigene neparvovec-rzyl (VN, Luxturna) is the only approved subretinal gene therapy that demonstrated benefit and safety. The eligibility criteria are vague and variable between centres. This is the first comprehensive outcome report of RPE65-LCA patients with World Health Organization blindness criteria vision treated with VN. DESIGN: Multicentre retrospective case series. PARTICIPANTS: Patients meeting the treatment criteria for VN who had best-corrected visual acuity (BCVA) <20/400 or visual field (VF)III4e isopter <10°. METHODS: Patients were followed for a mean of 11.1 ± 4.7 months. Age, sex, BCVA, central retinal thickness (CRT), retinal atrophy, VF, full-field stimulus testing (FST), and subjective impressions were assessed. RESULTS: ; p < 0.001). Subjective improvement in dim light navigation skills occurred in younger patients (20.3 vs 45.3 years; p < 0.001). CONCLUSIONS: , provided that measurable outer retinal structures persist.
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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| 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".