{
  "url": "https://dantelabs.com/traits/macular-edema",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "macular-edema",
    "id": "HP:0040049",
    "name": "Macular edema",
    "definition": "Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect.",
    "synonyms": [
      "Macular oedema"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "macular-thickening",
        "name": "Macular thickening",
        "url": "https://dantelabs.com/traits/macular-thickening"
      },
      {
        "slug": "retinal-edema",
        "name": "Retinal edema",
        "url": "https://dantelabs.com/traits/retinal-edema"
      }
    ],
    "narrower": [
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "genes": 103,
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      }
    ],
    "genes": [
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "hgnc": "HGNC:2074",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cln3"
      },
      {
        "slug": "fsd1l",
        "symbol": "FSD1L",
        "hgnc": "HGNC:13753",
        "name": "fibronectin type III and SPRY domain containing 1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fsd1l"
      },
      {
        "slug": "prpf31",
        "symbol": "PRPF31",
        "hgnc": "HGNC:15446",
        "name": "pre-mRNA processing factor 31",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf31"
      },
      {
        "slug": "trnt1",
        "symbol": "TRNT1",
        "hgnc": "HGNC:17341",
        "name": "tRNA nucleotidyl transferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trnt1"
      },
      {
        "slug": "ccnd1",
        "symbol": "CCND1",
        "hgnc": "HGNC:1582",
        "name": "cyclin D1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnd1"
      },
      {
        "slug": "chm",
        "symbol": "CHM",
        "hgnc": "HGNC:1940",
        "name": "CHM Rab escort protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chm"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "hgnc": "HGNC:4042",
        "name": "frizzled class receptor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd4"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "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": "nrl",
        "symbol": "NRL",
        "hgnc": "HGNC:8002",
        "name": "neural retina leucine zipper",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrl"
      },
      {
        "slug": "rp9",
        "symbol": "RP9",
        "hgnc": "HGNC:10288",
        "name": "RP9 pre-mRNA splicing factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp9"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "tspan12",
        "symbol": "TSPAN12",
        "hgnc": "HGNC:21641",
        "name": "tetraspanin 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tspan12"
      },
      {
        "slug": "vhl",
        "symbol": "VHL",
        "hgnc": "HGNC:12687",
        "name": "von Hippel-Lindau tumor suppressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vhl"
      },
      {
        "slug": "znf408",
        "symbol": "ZNF408",
        "hgnc": "HGNC:20041",
        "name": "zinc finger protein 408",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf408"
      },
      {
        "slug": "nr2e3",
        "symbol": "NR2E3",
        "hgnc": "HGNC:7974",
        "name": "nuclear receptor subfamily 2 group E member 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr2e3"
      }
    ]
  }
}