{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003409302,0.0003769395,0.0005861201,0.000143892,0.0001613009,0.0002989811,0.0001192036,0.0003928486,0.001053143],"category_scores_gemma":[0.0001862883,0.000105801,0.0004021027,0.0001264267,0.0002916886,0.0001376133,0.0001351359,0.0005010451,0.0002324573],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001810849,"about_ca_system_score_gemma":0.0001703598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002852178,"about_ca_topic_score_gemma":0.0004838896,"domain_scores_codex":[0.9998527,0.00003633658,0.0000149789,0.00002823095,0.00003647282,0.00003120709],"domain_scores_gemma":[0.9998888,0.00002878215,0.0000354188,0.00001159826,0.000008888203,0.0000264986],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.003590112,0.0006109544,0.004015374,0.0001339572,0.00004050989,0.002955651,0.00004455807,0.0002448129,0.9775766,0.00008474672,0.0001346406,0.01056802],"study_design_scores_gemma":[0.003836663,0.06969675,0.142444,0.0001004777,0.0005405908,0.05145856,0.0003149761,0.0046967,0.7134598,0.0004113143,0.01297943,0.00006077732],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971808,0.001258281,0.0006365601,0.00006923736,0.00001398726,0.0000519823,0.00006416631,0.00002548624,0.000699435],"genre_scores_gemma":[0.9979525,0.0006314881,0.0005786651,0.00008286138,0.00001558995,0.00003531156,0.0001183636,0.000004940403,0.0005802857],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001053143,"threshold_uncertainty_score":0.003523171,"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."}}