Trait
Fundus hypopigmentation
Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.
Summary
- Also called
- Decreased fundus pigmentation, Depigmented fundus, Hypopigmentation of the fundus
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Read the genes linked to Fundus hypopigmentation, and the rest of your genome, with one test.
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Get my Genome Test26 genes linked to Fundus hypopigmentation
Changes in these genes cause rare conditions in which Fundus hypopigmentation 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 |
|---|---|---|
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Always | In 2 conditions |
| CHMCHM Rab escort protein | Always | In 1 condition |
| MITFmelanocyte inducing transcription factor | Always | In 1 condition |
| SOX10SRY-box transcription factor 10 | Always | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Often (30–79%) | In 2 conditions |
| FOXC1forkhead box C1 | Often (30–79%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Often (30–79%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Often (30–79%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Often (30–79%) | In 1 condition |
| PAX6paired box 6 | Often (30–79%) | In 1 condition |
| PRPH2peripherin 2 | Often (30–79%) | In 1 condition |
| TRIM44TRIM family member 44 | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6 | Not recorded | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Not recorded | In 1 condition |
| EDNRBendothelin receptor type B | Not recorded | In 1 condition |
| GPR143G protein-coupled receptor 143 | Not recorded | In 1 condition |
| KIF7kinesin family member 7 | Not recorded | In 1 condition |
| MC1Rmelanocortin 1 receptor | Not recorded | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Not recorded | In 1 condition |
| PAX3paired box 3 | Not recorded | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Not recorded | In 1 condition |
| SLC45A2solute carrier family 45 member 2 | Not recorded | In 1 condition |
| TYRtyrosinase | 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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