{
  "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "severely-reduced-visual-acuity",
    "id": "HP:0001141",
    "name": "Marked vision impairment",
    "label": "Severely reduced visual acuity",
    "definition": "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.",
    "synonyms": [
      "Severe visual impairment",
      "Severely impaired vision",
      "Severe reduction in visual acuity",
      "Severe vision loss",
      "Severe visual loss"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "hgnc": "HGNC:1393",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1f"
      },
      {
        "slug": "dhrs3",
        "symbol": "DHRS3",
        "hgnc": "HGNC:17693",
        "name": "dehydrogenase/reductase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhrs3"
      },
      {
        "slug": "fastkd5",
        "symbol": "FASTKD5",
        "hgnc": "HGNC:25790",
        "name": "FASTK mitochondrial RNA regulator 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fastkd5"
      },
      {
        "slug": "fdxr",
        "symbol": "FDXR",
        "hgnc": "HGNC:3642",
        "name": "ferredoxin reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fdxr"
      },
      {
        "slug": "ofd1",
        "symbol": "OFD1",
        "hgnc": "HGNC:2567",
        "name": "OFD1 centriole and centriolar satellite protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ofd1"
      },
      {
        "slug": "prom1",
        "symbol": "PROM1",
        "hgnc": "HGNC:9454",
        "name": "prominin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prom1"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "znf513",
        "symbol": "ZNF513",
        "hgnc": "HGNC:26498",
        "name": "zinc finger protein 513",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf513"
      },
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "hgnc": "HGNC:359",
        "name": "AIP like 1 HSP90 co-chaperone",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aipl1"
      },
      {
        "slug": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "hgnc": "HGNC:1386",
        "name": "calcium binding protein 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cabp4"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "hgnc": "HGNC:2343",
        "name": "crumbs cell polarity complex component 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "hgnc": "HGNC:2383",
        "name": "cone-rod homeobox",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crx"
      },
      {
        "slug": "gdf6",
        "symbol": "GDF6",
        "hgnc": "HGNC:4221",
        "name": "growth differentiation factor 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "hgnc": "HGNC:4689",
        "name": "guanylate cyclase 2D, retinal",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gucy2d"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "impdh1",
        "symbol": "IMPDH1",
        "hgnc": "HGNC:6052",
        "name": "inosine monophosphate dehydrogenase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/impdh1"
      },
      {
        "slug": "iqcb1",
        "symbol": "IQCB1",
        "hgnc": "HGNC:28949",
        "name": "IQ motif containing B1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iqcb1"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "hgnc": "HGNC:6259",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj13"
      },
      {
        "slug": "lca5",
        "symbol": "LCA5",
        "hgnc": "HGNC:31923",
        "name": "lebercilin LCA5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lca5"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "hgnc": "HGNC:6685",
        "name": "lecithin retinol acyltransferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrat"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "hgnc": "HGNC:17877",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nmnat1"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "rd3",
        "symbol": "RD3",
        "hgnc": "HGNC:19689",
        "name": "RD3 regulator of GUCY2D",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rd3"
      },
      {
        "slug": "rdh12",
        "symbol": "RDH12",
        "hgnc": "HGNC:19977",
        "name": "retinol dehydrogenase 12",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rdh12"
      },
      {
        "slug": "rpe65",
        "symbol": "RPE65",
        "hgnc": "HGNC:10294",
        "name": "retinoid isomerohydrolase RPE65",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpe65"
      },
      {
        "slug": "spata7",
        "symbol": "SPATA7",
        "hgnc": "HGNC:20423",
        "name": "spermatogenesis associated 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spata7"
      },
      {
        "slug": "stx3",
        "symbol": "STX3",
        "hgnc": "HGNC:11438",
        "name": "syntaxin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx3"
      },
      {
        "slug": "tubb4b",
        "symbol": "TUBB4B",
        "hgnc": "HGNC:20771",
        "name": "tubulin beta 4B class IVb",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb4b"
      },
      {
        "slug": "tulp1",
        "symbol": "TULP1",
        "hgnc": "HGNC:12423",
        "name": "TUB like protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tulp1"
      },
      {
        "slug": "usp45",
        "symbol": "USP45",
        "hgnc": "HGNC:20080",
        "name": "ubiquitin specific peptidase 45",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp45"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "hgnc": "HGNC:6938",
        "name": "carbohydrate sulfotransferase 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst6"
      },
      {
        "slug": "crnkl1",
        "symbol": "CRNKL1",
        "hgnc": "HGNC:15762",
        "name": "crooked neck pre-mRNA splicing factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crnkl1"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "ostm1",
        "symbol": "OSTM1",
        "hgnc": "HGNC:21652",
        "name": "osteoclastogenesis associated transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ostm1"
      },
      {
        "slug": "wfs1",
        "symbol": "WFS1",
        "hgnc": "HGNC:12762",
        "name": "wolframin ER transmembrane glycoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wfs1"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "cyp4v2",
        "symbol": "CYP4V2",
        "hgnc": "HGNC:23198",
        "name": "cytochrome P450 family 4 subfamily V member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp4v2"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "hgnc": "HGNC:4042",
        "name": "frizzled class receptor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd4"
      },
      {
        "slug": "ndp",
        "symbol": "NDP",
        "hgnc": "HGNC:7678",
        "name": "norrin cystine knot growth factor NDP",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndp"
      },
      {
        "slug": "timp3",
        "symbol": "TIMP3",
        "hgnc": "HGNC:11822",
        "name": "TIMP metallopeptidase inhibitor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timp3"
      },
      {
        "slug": "tspan12",
        "symbol": "TSPAN12",
        "hgnc": "HGNC:21641",
        "name": "tetraspanin 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tspan12"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "hgnc": "HGNC:20041",
        "name": "zinc finger protein 408",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf408"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "hgnc": "HGNC:23056",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg3"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "hgnc": "HGNC:2153",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cngb3"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "hgnc": "HGNC:5163",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps1"
      },
      {
        "slug": "nhs",
        "symbol": "NHS",
        "hgnc": "HGNC:7820",
        "name": "NHS actin remodeling regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhs"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "hgnc": "HGNC:19104",
        "name": "nephrocystin 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nphp4"
      },
      {
        "slug": "rbmx",
        "symbol": "RBMX",
        "hgnc": "HGNC:9910",
        "name": "RNA binding motif protein X-linked",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbmx"
      }
    ]
  }
}