{
  "url": "https://dantelabs.com/traits/fundus-hypopigmentation",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "fundus-hypopigmentation",
    "id": "HP:0007894",
    "name": "Fundus hypopigmentation",
    "definition": "Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.",
    "synonyms": [
      "Decreased fundus pigmentation",
      "Depigmented fundus",
      "Hypopigmentation of the fundus"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-fundus-pigmentation",
        "name": "Abnormal fundus pigmentation",
        "url": "https://dantelabs.com/traits/abnormal-fundus-pigmentation"
      }
    ],
    "narrower": [
      {
        "slug": "absent-retinal-pigment-epithelium",
        "name": "Absent retinal pigment epithelium",
        "genes": 4,
        "url": "https://dantelabs.com/traits/absent-retinal-pigment-epithelium"
      },
      {
        "slug": "achromatic-retinal-patches",
        "name": "Achromatic retinal patches",
        "genes": 3,
        "url": "https://dantelabs.com/traits/achromatic-retinal-patches"
      }
    ],
    "genes": [
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "hgnc": "HGNC:1393",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cacna1f"
      },
      {
        "slug": "chm",
        "symbol": "CHM",
        "hgnc": "HGNC:1940",
        "name": "CHM Rab escort protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chm"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "hgnc": "HGNC:3800",
        "name": "forkhead box C1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxc1"
      },
      {
        "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": "guca1a",
        "symbol": "GUCA1A",
        "hgnc": "HGNC:4678",
        "name": "guanylate cyclase activator 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guca1a"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "hgnc": "HGNC:4689",
        "name": "guanylate cyclase 2D, retinal",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gucy2d"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "trim44",
        "symbol": "TRIM44",
        "hgnc": "HGNC:19016",
        "name": "TRIM family member 44",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim44"
      },
      {
        "slug": "lamb2",
        "symbol": "LAMB2",
        "hgnc": "HGNC:6487",
        "name": "laminin subunit beta 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamb2"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "hgnc": "HGNC:7467",
        "name": "microsomal triglyceride transfer protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mttp"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "hgnc": "HGNC:403",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh3a2"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "hgnc": "HGNC:8549",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bloc1s6"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "hgnc": "HGNC:3180",
        "name": "endothelin receptor type B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ednrb"
      },
      {
        "slug": "gpr143",
        "symbol": "GPR143",
        "hgnc": "HGNC:20145",
        "name": "G protein-coupled receptor 143",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr143"
      },
      {
        "slug": "kif7",
        "symbol": "KIF7",
        "hgnc": "HGNC:30497",
        "name": "kinesin family member 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif7"
      },
      {
        "slug": "mc1r",
        "symbol": "MC1R",
        "hgnc": "HGNC:6929",
        "name": "melanocortin 1 receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mc1r"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "hgnc": "HGNC:8101",
        "name": "OCA2 melanosomal transmembrane protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/oca2"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "hgnc": "HGNC:8617",
        "name": "paired box 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax3"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "hgnc": "HGNC:10985",
        "name": "solute carrier family 25 member 15",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a15"
      },
      {
        "slug": "slc45a2",
        "symbol": "SLC45A2",
        "hgnc": "HGNC:16472",
        "name": "solute carrier family 45 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc45a2"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyr"
      }
    ]
  }
}