Trait
Blind spot
Clinical name: Scotoma
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test31 genes linked to Blind spot
Changes in these genes cause rare conditions in which Blind spot 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 |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| UNC119unc-119 lipid binding chaperone | Always | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Very often (80–99%) | In 1 condition |
| ARSGarylsulfatase G | Very often (80–99%) | In 1 condition |
| CDH23cadherin related 23 | Very often (80–99%) | In 1 condition |
| CEP78centrosomal protein 78 | Very often (80–99%) | In 1 condition |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| ESPNespin | Very often (80–99%) | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Very often (80–99%) | In 1 condition |
| MYO7Amyosin VIIA | Very often (80–99%) | In 2 conditions |
| PCDH15protocadherin related 15 | Very often (80–99%) | In 1 condition |
| PDZD7PDZ domain containing 7 | Very often (80–99%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Very often (80–99%) | In 1 condition |
| USH1CUSH1 protein network component harmonin | Very often (80–99%) | In 1 condition |
| USH1GUSH1 protein network component sans | Very often (80–99%) | In 1 condition |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| WHRNwhirlin | Very often (80–99%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Often (30–79%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 1 condition |
| BTDbiotinidase | Sometimes (5–29%) | In 1 condition |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Sometimes (5–29%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Sometimes (5–29%) | In 1 condition |
| C1QTNF5C1q and TNF related 5 | Not recorded | In 1 condition |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Not recorded | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | 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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