Trait
Hole in the back of the eye
Clinical name: Retinal coloboma
A notch or cleft of the retina or choroid, located vertically below the optic disc.
Summary
- Body system
- Abnormality of the eye
Read the genes linked to Hole in the back of the eye, and the rest of your genome, with one test.
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Get my Genome Test32 genes linked to Hole in the back of the eye
Changes in these genes cause rare conditions in which Hole in the back of the eye 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 |
|---|---|---|
| FIBPFGF1 intracellular binding protein | Always | In 2 conditions |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Always | In 2 conditions |
| SALL2spalt like transcription factor 2 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 2 conditions |
| FZD5frizzled class receptor 5 | Often (30–79%) | In 1 condition |
| HMX1H6 family homeobox 1 | Often (30–79%) | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Often (30–79%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 1 condition |
| FGF3fibroblast growth factor 3 | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 1 condition |
| INTS1integrator complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| MAN2C1mannosidase alpha class 2C member 1 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| PAX2paired box 2 | Sometimes (5–29%) | In 2 conditions |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 2 conditions |
| RAB18RAB18, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Sometimes (5–29%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Sometimes (5–29%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| B3GLCTbeta 3-glucosyltransferase | Not recorded | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Not recorded | In 1 condition |
| SALL4spalt like transcription factor 4 | Not recorded | In 1 condition |
| TBC1D32TBC1 domain family member 32 | 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.
Broader traits
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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