{
  "url": "https://dantelabs.com/traits/scotoma",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "scotoma",
    "id": "HP:0000575",
    "name": "Blind spot",
    "label": "Scotoma",
    "definition": "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.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      }
    ],
    "narrower": [
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "genes": 76,
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "centrocecal-scotoma",
        "name": "Centrocecal scotoma",
        "genes": 13,
        "url": "https://dantelabs.com/traits/centrocecal-scotoma"
      },
      {
        "slug": "ring-scotoma",
        "name": "Ring scotoma",
        "genes": 10,
        "url": "https://dantelabs.com/traits/ring-scotoma"
      },
      {
        "slug": "paracentral-scotoma",
        "name": "Paracentral scotoma",
        "genes": 8,
        "url": "https://dantelabs.com/traits/paracentral-scotoma"
      },
      {
        "slug": "pericentral-scotoma",
        "name": "Pericentral scotoma",
        "genes": 2,
        "url": "https://dantelabs.com/traits/pericentral-scotoma"
      },
      {
        "slug": "arcuate-scotoma",
        "name": "Arc-shaped blind spot",
        "genes": 1,
        "url": "https://dantelabs.com/traits/arcuate-scotoma"
      }
    ],
    "genes": [
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "hgnc": "HGNC:8142",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa3"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "unc119",
        "symbol": "UNC119",
        "hgnc": "HGNC:12565",
        "name": "unc-119 lipid binding chaperone",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc119"
      },
      {
        "slug": "adgrv1",
        "symbol": "ADGRV1",
        "hgnc": "HGNC:17416",
        "name": "adhesion G protein-coupled receptor V1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adgrv1"
      },
      {
        "slug": "arsg",
        "symbol": "ARSG",
        "hgnc": "HGNC:24102",
        "name": "arylsulfatase G",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsg"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "hgnc": "HGNC:13733",
        "name": "cadherin related 23",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh23"
      },
      {
        "slug": "cep78",
        "symbol": "CEP78",
        "hgnc": "HGNC:25740",
        "name": "centrosomal protein 78",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep78"
      },
      {
        "slug": "clrn1",
        "symbol": "CLRN1",
        "hgnc": "HGNC:12605",
        "name": "clarin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clrn1"
      },
      {
        "slug": "espn",
        "symbol": "ESPN",
        "hgnc": "HGNC:13281",
        "name": "espin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/espn"
      },
      {
        "slug": "hars1",
        "symbol": "HARS1",
        "hgnc": "HGNC:4816",
        "name": "histidyl-tRNA synthetase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hars1"
      },
      {
        "slug": "mt-ts2",
        "symbol": "MT-TS2",
        "hgnc": "HGNC:7498",
        "name": "mitochondrially encoded tRNA-Ser (AGU/C) 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ts2"
      },
      {
        "slug": "myo7a",
        "symbol": "MYO7A",
        "hgnc": "HGNC:7606",
        "name": "myosin VIIA",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/myo7a"
      },
      {
        "slug": "pcdh15",
        "symbol": "PCDH15",
        "hgnc": "HGNC:14674",
        "name": "protocadherin related 15",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcdh15"
      },
      {
        "slug": "pdzd7",
        "symbol": "PDZD7",
        "hgnc": "HGNC:26257",
        "name": "PDZ domain containing 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdzd7"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "hgnc": "HGNC:10024",
        "name": "retinaldehyde binding protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "ush1c",
        "symbol": "USH1C",
        "hgnc": "HGNC:12597",
        "name": "USH1 protein network component harmonin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ush1c"
      },
      {
        "slug": "ush1g",
        "symbol": "USH1G",
        "hgnc": "HGNC:16356",
        "name": "USH1 protein network component sans",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ush1g"
      },
      {
        "slug": "ush2a",
        "symbol": "USH2A",
        "hgnc": "HGNC:12601",
        "name": "usherin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ush2a"
      },
      {
        "slug": "whrn",
        "symbol": "WHRN",
        "hgnc": "HGNC:16361",
        "name": "whirlin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/whrn"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "hgnc": "HGNC:800",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a2"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "prrt2",
        "symbol": "PRRT2",
        "hgnc": "HGNC:30500",
        "name": "proline rich transmembrane protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prrt2"
      },
      {
        "slug": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "hgnc": "HGNC:1122",
        "name": "biotinidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btd"
      },
      {
        "slug": "cnnm4",
        "symbol": "CNNM4",
        "hgnc": "HGNC:105",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnnm4"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "hgnc": "HGNC:7467",
        "name": "microsomal triglyceride transfer protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mttp"
      },
      {
        "slug": "rp1",
        "symbol": "RP1",
        "hgnc": "HGNC:10263",
        "name": "RP1 axonemal microtubule associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp1"
      },
      {
        "slug": "slc25a46",
        "symbol": "SLC25A46",
        "hgnc": "HGNC:25198",
        "name": "solute carrier family 25 member 46",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a46"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "kcnv2",
        "symbol": "KCNV2",
        "hgnc": "HGNC:19698",
        "name": "potassium voltage-gated channel modifier subfamily V member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnv2"
      },
      {
        "slug": "prpf3",
        "symbol": "PRPF3",
        "hgnc": "HGNC:17348",
        "name": "pre-mRNA processing factor 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf3"
      }
    ]
  }
}