Trait
Abnormal macular pigmentation
Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.
Summary
- Also called
- Abnormality of macular pigmentation
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test12 genes linked to Abnormal macular pigmentation
Changes in these genes cause rare conditions in which Abnormal macular pigmentation 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 |
|---|---|---|
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Always | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 1 condition |
| CDH3cadherin 3 | Very often (80–99%) | In 1 condition |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Very often (80–99%) | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Often (30–79%) | In 1 condition |
| OPN1LWopsin 1, long wave sensitive | Sometimes (5–29%) | In 1 condition |
| OPN1MWopsin 1, medium wave sensitive | Sometimes (5–29%) | In 1 condition |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Not recorded | In 1 condition |
| RD3RD3 regulator of GUCY2D | 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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