Trait
Retina issue
Clinical name: Abnormal retinal morphology
A structural abnormality of the retina.
Summary
- Also called
- Abnormal retina, Abnormality of the retina, Anomaly of the retina
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test16 genes linked to Retina issue
Changes in these genes cause rare conditions in which Retina issue 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 |
|---|---|---|
| OPN1SWopsin 1, short wave sensitive | Often (30–79%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Sometimes (5–29%) | In 1 condition |
| KRT25keratin 25 | Sometimes (5–29%) | In 1 condition |
| KRT71keratin 71 | Sometimes (5–29%) | In 1 condition |
| KRT74keratin 74 | Sometimes (5–29%) | In 1 condition |
| LIPHlipase H | Sometimes (5–29%) | In 1 condition |
| LPAR6lysophosphatidic acid receptor 6 | Sometimes (5–29%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| RELNreelin | Sometimes (5–29%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 1 condition |
| TK2thymidine kinase 2 | Sometimes (5–29%) | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Sometimes (5–29%) | In 1 condition |
| ATCAYATCAY kinesin light chain interacting caytaxin | 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.
Narrower traits
- Abnormal retinal pigmentation236 genes
- Retina degeneration225 genes
- Noninflammatory retina disease142 genes
- Breakdown of light-sensitive cells in back of eye127 genes
- Abnormality of retina blood vessels113 genes
- Retinal detachment110 genes
- Abnormal chorioretinal morphology34 genes
- Hole in the back of the eye32 genes
- Abnormal macular morphology31 genes
- Retinal dysplasia28 genes
- Retinal bleeding23 genes
- Angioid streaks10 genes
- Subretinal fluid10 genes
- Retinal fold8 genes
- Subretinal deposits7 genes
- Yellow/white retinal lesion7 genes
- Retinoschisis6 genes
- Retinal hamartoma5 genes
- Retinal peau d'orange4 genes
- Retinitis4 genes
- Abnormal retinal nerve fiber layer morphology3 genes
- Retinal tear3 genes
- Sub-RPE deposits2 genes
- Retinal infarction1 gene
- Absent/small retina
- Retinal edema
- Retinal neoplasm
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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