Trait
Macular edema
Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect.
Summary
- Also called
- Macular oedema
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test18 genes linked to Macular edema
Changes in these genes cause rare conditions in which Macular edema 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 |
|---|---|---|
| TMEM216transmembrane protein 216 | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Often (30–79%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Often (30–79%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Often (30–79%) | In 1 condition |
| TRNT1tRNA nucleotidyl transferase 1 | Often (30–79%) | In 1 condition |
| CCND1cyclin D1 | Sometimes (5–29%) | In 1 condition |
| CHMCHM Rab escort protein | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NRLneural retina leucine zipper | Sometimes (5–29%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Sometimes (5–29%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 2 conditions |
| TSPAN12tetraspanin 12 | Sometimes (5–29%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 1 condition |
| ZNF408zinc finger protein 408 | Sometimes (5–29%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | 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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