Trait
Drusen
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test11 genes linked to Drusen
Changes in these genes cause rare conditions in which Drusen is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ESPNespin | Always | In 1 condition |
| C1QTNF5C1q and TNF related 5 | Often (30–79%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Sometimes (5–29%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Sometimes (5–29%) | In 1 condition |
| PRPH2peripherin 2 | Sometimes (5–29%) | In 2 conditions |
| CFHcomplement factor H | Not recorded | In 1 condition |
| CFIcomplement factor I | Not recorded | In 1 condition |
| CTNNA1catenin alpha 1 | Not recorded | In 1 condition |
| FBLN5fibulin 5 | Not recorded | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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