“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 Nine patients met the inclusion criteria (mean: BCVA 1.89 LogMAR, range: 1.4 – 2.7 LogMAR, mean age: 28.7-years-old, range: 17–59 years). Though VF area did not improve, FST improved in patients with better baseline FST (−8.83 dB vs −0.56 dB; p = 0.010), and better VFV4e (7245 vs 341 o2 ; p < 0.001) and III4e (596.1 vs 24.8 o2 ; p = 0.011) area. VA improved in younger (20 vs 32 years; p = 0.011) patients with thinner CRT 1mm (155 vs 193 µm; p = 0.038). VFV4e loss occurred in older (38 vs 19 years; p = 0.001) patients with worse baseline V4e area (1728 vs 8159 o2 ; p < 0.001). Subjective improvement in dim light navigation skills occurred in younger patients (20.3 vs 45.3 years; p < 0.001). Conclusions Blindness is not a contraindication to VN treatment for RPE65 -LCA. Superior results correlated with greater baseline FST but not with CRT 1mm , provided that measurable outer retinal structures persist.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".