{"id":"69cc3e8f-d41f-54a8-997c-e9d1fa5fb258","stable_key":"dff9f743-3766-5f20-a71e-d6d2bd5bfb6f:a-vision-rdh5-night-adaptation","predicate":"delay","statement":"The RDH5-associated fundus albipunctatus phenotype included delayed visual-pigment regeneration and night blindness.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"daa1cde7-3a90-583d-aba6-b355db1e665b","mechanism_event_label":"A recycling defect can delay vision recovery in darkness despite a different cause from dietary deficiency.","subject":{"id":"75d0fcbe-41ff-571b-9e8c-478f8a0bb070","slug":"rdh5-pathogenic-variants","display_name":"Pathogenic RDH5 variants","entity_type_key":"protein_state"},"object":{"id":"cc277d25-a552-5c47-9c82-a642fbc2c4a8","slug":"rod-dark-adaptation","display_name":"Rod dark adaptation","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"daa1cde7-3a90-583d-aba6-b355db1e665b","stable_key":"dff9f743-3766-5f20-a71e-d6d2bd5bfb6f:a-vision-rdh5-night-adaptation-event","event_type":"observed_intervention","label":"A recycling defect can delay vision recovery in darkness despite a different cause from dietary deficiency.","description":"The RDH5-associated fundus albipunctatus phenotype included delayed visual-pigment regeneration and night blindness.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"75d0fcbe-41ff-571b-9e8c-478f8a0bb070","slug":"rdh5-pathogenic-variants","display_name":"Pathogenic RDH5 variants","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"cc277d25-a552-5c47-9c82-a642fbc2c4a8","slug":"rod-dark-adaptation","display_name":"Rod dark adaptation","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"experimental_model","value_text":"Clinical phenotype and family segregation","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Genetic association plus enzyme evidence; not a supplementation trial.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Vitamin A research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"vitamin-a","display_name":"Vitamin A","entity_type_key":"chemical_species"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A recycling defect can delay vision recovery in darkness despite a different cause from dietary deficiency.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[yamamoto-1999] Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999). https://pubmed.ncbi.nlm.nih.gov/10369264/ DOI: 10.1038/9707","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Retina","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"b5aceaff-8094-5a96-abe5-f6712e6d910a","evidence_kind":"source_excerpt","locator":"Lines 745-754","start_line":745,"end_line":754,"excerpt":"### a-vision-rdh5-night-adaptation\nThe RDH5-associated fundus albipunctatus phenotype included delayed visual-pigment regeneration and night blindness.\nCondition category: machinery_impairment\nnutrient_topic: Vitamin A research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A recycling defect can delay vision recovery in darkness despite a different cause from dietary deficiency.\norganism: Homo sapiens\ntissue_or_cell_type: Retina\nexperimental_model: Clinical phenotype and family segregation\nlimitations: Genetic association plus enzyme evidence; not a supplementation trial.\n[yamamoto-1999] Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999). https://pubmed.ncbi.nlm.nih.gov/10369264/ DOI: 10.1038/9707","model_system":"Clinical phenotype and family segregation","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [yamamoto-1999] Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999). https://pubmed.ncbi.nlm.nih.gov/10369264/ DOI: 10.1038/9707","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"0c5474e2-be48-547b-b287-9c07a59c9ff1","stable_key":"import-dff9f743-3766-5f20-a71e-d6d2bd5bfb6f","title":"Vitamin A: forms, mechanisms, deficiency and excess (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"b217224b262abbd77d6a0c8c9beefff9c022fae4d31e2a5273915d769b9a6546","revision_id":"61008909-871f-575c-b5e2-21542689ea3c","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}