Trait
Abnormal optic disc morphology
A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test37 genes linked to Abnormal optic disc morphology
Changes in these genes cause rare conditions in which Abnormal optic disc morphology 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 |
|---|---|---|
| LIM2lens intrinsic membrane protein 2 | Always | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Very often (80–99%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Very often (80–99%) | In 1 condition |
| CABP4calcium binding protein 4 | Very often (80–99%) | In 1 condition |
| CEP290centrosomal protein 290 | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 1 condition |
| CRXcone-rod homeobox | Very often (80–99%) | In 1 condition |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Very often (80–99%) | In 1 condition |
| IFT140intraflagellar transport 140 | Very often (80–99%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Very often (80–99%) | In 1 condition |
| IQCB1IQ motif containing B1 | Very often (80–99%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Very often (80–99%) | In 1 condition |
| LCA5lebercilin LCA5 | Very often (80–99%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Very often (80–99%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Very often (80–99%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 1 condition |
| RD3RD3 regulator of GUCY2D | Very often (80–99%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Very often (80–99%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Very often (80–99%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Very often (80–99%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Very often (80–99%) | In 1 condition |
| TULP1TUB like protein 1 | Very often (80–99%) | In 1 condition |
| USP45ubiquitin specific peptidase 45 | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| FZD4frizzled class receptor 4 | Often (30–79%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Often (30–79%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Often (30–79%) | In 1 condition |
| TSPAN12tetraspanin 12 | Often (30–79%) | In 1 condition |
| ZNF408zinc finger protein 408 | Often (30–79%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | 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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