{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001575367,0.001828232,0.0007635851,0.0008939413,0.0009806438,0.0005198325,0.0006090149,0.001485543,0.002057187],"category_scores_gemma":[0.0006154625,0.0004481532,0.0005397072,0.0005514772,0.001118813,0.000354652,0.0007440758,0.001213669,0.0005529209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005021952,"about_ca_system_score_gemma":0.0003838538,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00258984,"about_ca_topic_score_gemma":0.002081212,"domain_scores_codex":[0.9996719,0.00003018046,0.00003285701,0.0001192593,0.00006544357,0.00008033316],"domain_scores_gemma":[0.9994546,0.0001514334,0.000140427,0.00002988204,0.00004078092,0.0001829345],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001640822,0.00008266646,0.007418804,0.00010227,0.00003255982,0.9609895,0.0002568584,0.0001111685,0.02594654,0.0003477405,0.0004104064,0.004137415],"study_design_scores_gemma":[0.00001739961,0.0002595984,0.02191029,0.00001817214,0.00003672974,0.9713725,0.00008876133,0.0002408617,0.004923537,0.00008320553,0.001033359,0.00001566166],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9885935,0.001906389,0.002273701,0.0005708975,0.00009818358,0.0001155606,0.0004339932,0.0003048388,0.005703031],"genre_scores_gemma":[0.9962813,0.0006210481,0.0009195813,0.0001232454,0.00006326929,0.00001233072,0.0001047636,0.00003162537,0.001842803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00258984,"threshold_uncertainty_score":0.006882012,"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."}}