Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Bibliographic record
Abstract
PURPOSE: To describe the natural history of autosomal recessive IMPG2-associated retinal dystrophy. DESIGN: Multicenter international retrospective case series. METHODS: Review of clinical notes, retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), and molecular genetic testing, of sixty patients with molecularly confirmed IMPG2-associated retinal dystrophy from 14 tertiary eye centers. Qualitative OCT and FAF imaging analysis. RESULTS: In total, 60 patients from 52 pedigrees with likely disease-causing variants in IMPG2 from 14 tertiary referral centers in 11 countries were ascertained for phenotyping. Twenty-two patients were females (36.7%). Of those with documented age of disease onset, 23% had "late onset" (>18 years old [yo]) with a mean age of onset of 34.3 yo, and 77% had "early onset" disease (<18 yo) with a mean age of onset of 10.8 yo. Mean best-corrected visual acuity (BCVA) was 0.55 LogMAR at a mean age of 33 yo. Forty-eight percent of the patients presented with nyctalopia and 38% presented with decreased BCVA. Eighty-eight percent of the patients were myopic. Foveal involvement with atrophic changes was a common finding on OCT and FAF. Fifty-three variants were identified: 13 missense (25%), 12 nonsense (23%), 11 splicing variants (21%), 16 frameshifts (30%), and one large deletion (2%). Twenty-one (40%) of the variants were not previously clinically characterized. CONCLUSION: Autosomal recessive IMPG2-retinal dystrophy is typically an early onset retinal dystrophy associated with poor visual acuity. Younger patients are more likely to benefit from intervention in future trials due to early macular involvement in most patients.
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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) | 0.000 | 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".