Trait
Marked vision impairment
Clinical name: Severely reduced visual acuity
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.
Summary
- Also called
- Severe visual impairment, Severely impaired vision, Severe reduction in visual acuity, Severe vision loss, Severe visual loss
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test55 genes linked to Marked vision impairment
Changes in these genes cause rare conditions in which Marked vision impairment 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 1 condition |
| DHRS3dehydrogenase/reductase 3 | Always | In 1 condition |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Always | In 1 condition |
| PROM1prominin 1 | Always | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Always | In 3 conditions |
| TMEM216transmembrane protein 216 | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| ZNF513zinc finger protein 513 | 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 2 conditions |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 1 condition |
| STX3syntaxin 3 | 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 |
| C1QTNF5C1q and TNF related 5 | Often (30–79%) | In 1 condition |
| CHST6carbohydrate sulfotransferase 6 | Often (30–79%) | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Often (30–79%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Often (30–79%) | In 2 conditions |
Show 15 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| TIMP3TIMP metallopeptidase inhibitor 3 | Sometimes (5–29%) | In 1 condition |
| TSPAN12tetraspanin 12 | Sometimes (5–29%) | In 1 condition |
| ZNF408zinc finger protein 408 | Sometimes (5–29%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Not recorded | In 1 condition |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Not recorded | In 1 condition |
| NHSNHS actin remodeling regulator | Not recorded | In 1 condition |
| NPHP4nephrocystin 4 | Not recorded | In 1 condition |
| RBMXRNA binding motif protein X-linked | 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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