Component
Pathogenic RDH5 variants
Pathogenic RDH5 variants is an experimental or genetic machinery state, not dietary vitamin A deficiency.
2 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What it acts on
RDH5 variants segregating with fundus albipunctatus showed lower recombinant enzyme activity than wild type.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- experimental_model
- Patient genetics and recombinant enzyme assay
- limitations
- Variants were evaluated in a small number of families.
- nutrient_topic
- Vitamin A research collection; topical membership is not evidence of a direct dietary effect. · Vitamin A
- organism
- Homo sapiens
- plain_language
- The inherited protein changes weaken the recycling reaction.
- primary_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
- tissue_or_cell_type
- RPE enzyme model
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin A: forms, mechanisms, deficiency and excess (2026-09-17) · lines 734–743
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Patient genetics and recombinant enzyme assay · source_derived_draft · unverified_draft
### a-vision-rdh5-mutant-activity RDH5 variants segregating with fundus albipunctatus showed lower recombinant enzyme activity than wild type. Condition category: machinery_impairment nutrient_topic: Vitamin A research collection; topical membership is not evidence of a direct dietary effect. plain_language: The inherited protein changes weaken the recycling reaction. organism: Homo sapiens tissue_or_cell_type: RPE enzyme model experimental_model: Patient genetics and recombinant enzyme assay limitations: Variants were evaluated in a small number of families. [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
Complete structured claim and evidenceThe RDH5-associated fundus albipunctatus phenotype included delayed visual-pigment regeneration and night blindness.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- experimental_model
- Clinical phenotype and family segregation
- limitations
- Genetic association plus enzyme evidence; not a supplementation trial.
- nutrient_topic
- Vitamin A research collection; topical membership is not evidence of a direct dietary effect. · Vitamin A
- organism
- Homo sapiens
- plain_language
- A recycling defect can delay vision recovery in darkness despite a different cause from dietary deficiency.
- primary_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
- tissue_or_cell_type
- Retina
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin A: forms, mechanisms, deficiency and excess (2026-09-17) · lines 745–754
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Clinical phenotype and family segregation · source_derived_draft · unverified_draft
### a-vision-rdh5-night-adaptation The RDH5-associated fundus albipunctatus phenotype included delayed visual-pigment regeneration and night blindness. Condition category: machinery_impairment nutrient_topic: Vitamin A research collection; topical membership is not evidence of a direct dietary effect. plain_language: A recycling defect can delay vision recovery in darkness despite a different cause from dietary deficiency. organism: Homo sapiens tissue_or_cell_type: Retina experimental_model: Clinical phenotype and family segregation limitations: Genetic association plus enzyme evidence; not a supplementation trial. [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
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.