{"id":"W7117502955","doi":"10.1111/cge.70128","title":"Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A ( <scp>RESORVA</scp> ): A Novel <scp> <i>RDH11</i> </scp> ‐Related Phenotype","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"North York General Hospital; Hospital for Sick Children; University of Toronto","funders":"Foundation Fighting Blindness","keywords":"RPE65; Retinal pigment epithelium; Retinal; Visual phototransduction; Retinaldehyde; Phenotype; Retinal Disorder; Cis-trans-Isomerases; Retina","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001185088,0.0004388546,0.00066024,0.0001608636,0.0001282864,0.00004808771,0.0006452872,0.0006219672,0.000006628648],"category_scores_gemma":[0.00334152,0.000445411,0.0003946259,0.0005646421,0.0003064158,0.000005411381,0.0006112977,0.0004052767,0.00006585464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002669809,"about_ca_system_score_gemma":0.0004002062,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007349131,"about_ca_topic_score_gemma":0.00001500882,"domain_scores_codex":[0.9962222,0.0002003475,0.001529553,0.0009735459,0.0003731595,0.0007011847],"domain_scores_gemma":[0.9976877,0.0005404785,0.0003756508,0.0007274635,0.0003354443,0.0003332771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003345696,0.00209871,0.08741535,0.0002833733,0.0007525331,0.00004931521,0.0006911212,0.002304661,0.840856,0.0005444529,0.03543705,0.02923292],"study_design_scores_gemma":[0.007321185,0.004324516,0.1684674,0.0005166366,0.0005009461,0.00003492355,0.001340595,0.001473889,0.5306969,0.000800719,0.2840161,0.0005062451],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9790738,0.00174764,0.0119447,0.0001981497,0.0008004167,0.0005828627,0.00004499486,0.00003715376,0.00557028],"genre_scores_gemma":[0.9731362,0.001790429,0.01879798,0.001582954,0.0002807626,0.00005565161,0.0001796877,0.00007786982,0.004098414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3101591,"threshold_uncertainty_score":0.9997998,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01476561891566684,"score_gpt":0.2908462107938492,"score_spread":0.2760805918781823,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}