{"id":"W4411089976","doi":"10.1016/j.ajo.2025.05.044","title":"Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy","year":2025,"lang":"en","type":"article","venue":"American Journal of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Moorfields Eye Hospital NHS Foundation Trust; Alexander S. Onassis Public Benefit Foundation; Ministerstvo Zdravotnictví Ceské Republiky; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; A.G. Leventis Foundation; Wellcome Trust; Foundation Fighting Blindness","keywords":"Retinal; Natural history; Dystrophy; Medicine; Ophthalmology; Genetics; Optometry; Biology; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003949239,0.0003250671,0.0002807844,0.000850864,0.0005365392,0.0004268829,0.0004313226,0.0005586905,0.00133483],"category_scores_gemma":[0.002469198,0.000250605,0.0002462554,0.0005577655,0.0005515108,0.0004610282,0.0004196625,0.0003460022,0.0002544961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003656419,"about_ca_system_score_gemma":0.0002095683,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001383432,"about_ca_topic_score_gemma":0.001326311,"domain_scores_codex":[0.9995784,0.0001069133,0.00004217604,0.0001139262,0.00007529441,0.00008327165],"domain_scores_gemma":[0.9982337,0.0003424329,0.0009343792,0.00009240324,0.000131421,0.0002657111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007445105,0.00002082736,0.9791206,0.0000146978,0.00001705979,0.01795827,0.0001233255,0.00004984051,0.0007466286,0.00003043138,0.0001750198,0.001668783],"study_design_scores_gemma":[0.00000890976,0.0001200848,0.8415269,0.00002247107,0.00002436568,0.1570864,0.0002969048,0.0001941698,0.0002540187,0.00003554434,0.0004219568,0.000008332147],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985625,0.000545742,0.0001009558,0.00005419519,0.000003767015,0.000007380312,0.0001012324,0.000009335836,0.000614809],"genre_scores_gemma":[0.9994923,0.0001642426,0.00007175137,0.00004143406,0.00001642357,0.000004153813,0.0001410661,0.000002738769,0.00006584866],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001383432,"threshold_uncertainty_score":0.004465401,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005866300394364879,"score_gpt":0.2535461532186182,"score_spread":0.2476798528242533,"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."}}