{"id":"W3022092490","doi":"10.1136/bmjophth-2020-000462","title":"Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy","year":2020,"lang":"en","type":"article","venue":"BMJ Open Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Canadian Institutes of Health Research; Science Foundation Ireland; National Institutes of Health; Agence Nationale de la Recherche; Trinity College Dublin; Institute of Genetics; Medical Research Charities Group","keywords":"RPE65; Retinitis pigmentosa; Medicine; Visual acuity; Retinoid; Electroretinography; Enzyme replacement therapy; Visual phototransduction; Ophthalmology; Cis-trans-Isomerases; Internal medicine; Retinal; Disease; Enzyme; Biology; Biochemistry; Retinal pigment epithelium; Genetics; Retinoic acid; Cell culture","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0003764699,0.0002932834,0.0003677961,0.00005564462,0.0001682428,0.0000824539,0.0005094027,0.0001720774,0.0004191586],"category_scores_gemma":[0.0004200298,0.0002606708,0.00006755397,0.0002397144,0.0001036879,0.00001840831,0.0003297074,0.0001289208,0.0001036624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001801751,"about_ca_system_score_gemma":0.0002221322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005454943,"about_ca_topic_score_gemma":0.000007600288,"domain_scores_codex":[0.9979513,0.0003025678,0.0003720513,0.0007605913,0.0001866442,0.0004267943],"domain_scores_gemma":[0.9989931,0.00005932615,0.0002248413,0.0003705682,0.0001584141,0.0001937277],"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":[0.09775205,0.0004240233,0.07376066,0.0001700969,0.0006609493,0.004053613,0.008824798,0.0004756007,0.7467033,0.00008162291,0.02137096,0.04572233],"study_design_scores_gemma":[0.009846853,0.01512992,0.04508524,0.0002523933,0.00007143181,0.004187358,0.005359161,0.0001296418,0.8296955,0.0003299898,0.08762342,0.002289067],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9811402,0.0001072969,0.0002325271,0.007486914,0.00009119682,0.002012374,0.00002329153,0.00001378313,0.008892412],"genre_scores_gemma":[0.9877661,0.00005229456,0.00610982,0.003736647,0.00005195582,0.0003863908,0.0001829578,0.00005170172,0.001662169],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0879052,"threshold_uncertainty_score":0.9999846,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04716133352906476,"score_gpt":0.3542574199206929,"score_spread":0.3070960863916282,"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."}}