Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A ( <scp>RESORVA</scp> ): A Novel <scp> <i>RDH11</i> </scp> ‐Related Phenotype
Bibliographic record
Abstract
Retinol dehydrogenases (RDHs) catalyze multiple steps in the visual cycle to regenerate 11-cis-retinal, a critical component in rod phototransduction. The structural homology between RDHs enables functional redundancy; yet Mendelian disorders are linked to RDHs. Variants in RDH12 and RDH5 cause non-syndromic inherited retinal dystrophy (IRD), whilst variants in RDH11 cause syndromic IRD. RDH11 is a minor isoenzyme catalyzing two reactions: (i) reduction of all-trans-retinal in rod photoreceptors alongside RDH12 and RDH8, and (ii) oxidation of 11-cis-retinol in the retinal pigment epithelium (RPE) alongside RDH5 and RDH10. Prior cases with RDH11 demonstrated a generalized photoreceptor dystrophy, similar to RDH12-retinopathy. We describe a visually asymptomatic 7-year-old boy carrying a homozygous null variant in RDH11 [NM_016026.4:c.216C>A:p.(Cys72*)] with autism, dysmorphic features, oligodontia, microcephaly and a novel IRD. This retinopathy consisted of yellow deposits and hyperpigmentation within the RPE with absent autofluorescence and a normal electroretinogram implying sub-optimal oxidation of 11-cis-retinol. These features are reminiscent of RDH5-retinopathy but milder. We termed this phenotype Retinal pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA). We propose that the divergence in retinal phenotypes among RDH11 cases is likely due to variant-specific protein effects on paralogous gene functioning, such as differences in activation of transcriptional adaptation.
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 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".