Trait
Abnormal fundus pigmentation
Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Fundus pigmentation should be evaluated in the context of skin and hair color.
Summary
- Also called
- Abnormality of fundus pigmentation
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormal fundus pigmentation, and the rest of your genome, with one test.
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Get my Genome Test15 genes linked to Abnormal fundus pigmentation
Changes in these genes cause rare conditions in which Abnormal fundus 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 |
|---|---|---|
| RPGRIP1RPGR interacting protein 1 | Always | In 1 condition |
| PRPH2peripherin 2 | Sometimes (5–29%) | In 1 condition |
| RDH5retinol dehydrogenase 5 | Sometimes (5–29%) | In 1 condition |
| RHOrhodopsin | Sometimes (5–29%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Sometimes (5–29%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Not recorded | In 1 condition |
| ARL6ARF like GTPase 6 | Not recorded | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Not recorded | In 1 condition |
| CLRN1clarin 1 | Not recorded | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Not recorded | In 1 condition |
| CRXcone-rod homeobox | Not recorded | In 1 condition |
| LRATlecithin retinol acyltransferase | Not recorded | In 1 condition |
| PDE6Gphosphodiesterase 6G | Not recorded | In 1 condition |
| RBP3retinol binding protein 3 | Not recorded | In 1 condition |
| ROM1retinal outer segment membrane protein 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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