{
  "url": "https://dantelabs.com/traits/central-scotoma",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "central-scotoma",
    "id": "HP:0000603",
    "name": "Blind spot located at fixation point",
    "label": "Central scotoma",
    "definition": "An area of depressed vision located at the point of fixation and that interferes with central vision.",
    "synonyms": [
      "Central blind spot",
      "Central scotomata"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "scotoma",
        "name": "Blind spot",
        "url": "https://dantelabs.com/traits/scotoma"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "fdxr",
        "symbol": "FDXR",
        "hgnc": "HGNC:3642",
        "name": "ferredoxin reductase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fdxr"
      },
      {
        "slug": "mcat",
        "symbol": "MCAT",
        "hgnc": "HGNC:29622",
        "name": "malonyl-CoA-acyl carrier protein transacylase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcat"
      },
      {
        "slug": "mecr",
        "symbol": "MECR",
        "hgnc": "HGNC:19691",
        "name": "mitochondrial trans-2-enoyl-CoA reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecr"
      },
      {
        "slug": "mfsd8",
        "symbol": "MFSD8",
        "hgnc": "HGNC:28486",
        "name": "major facilitator superfamily domain containing 8",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mfsd8"
      },
      {
        "slug": "mtrfr",
        "symbol": "MTRFR",
        "hgnc": "HGNC:26784",
        "name": "mitochondrial translation release factor in rescue",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtrfr"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "hgnc": "HGNC:8140",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/opa1"
      },
      {
        "slug": "poc1b",
        "symbol": "POC1B",
        "hgnc": "HGNC:30836",
        "name": "POC1 centriolar protein B",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/poc1b"
      },
      {
        "slug": "rbp3",
        "symbol": "RBP3",
        "hgnc": "HGNC:9921",
        "name": "retinol binding protein 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbp3"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "hgnc": "HGNC:34",
        "name": "ATP binding cassette subfamily A member 4",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/abca4"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "hgnc": "HGNC:2153",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cngb3"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "hgnc": "HGNC:6174",
        "name": "integral membrane protein 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itm2b"
      },
      {
        "slug": "prom1",
        "symbol": "PROM1",
        "hgnc": "HGNC:9454",
        "name": "prominin 1",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/prom1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "adam9",
        "symbol": "ADAM9",
        "hgnc": "HGNC:216",
        "name": "ADAM metallopeptidase domain 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adam9"
      },
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "hgnc": "HGNC:359",
        "name": "AIP like 1 HSP90 co-chaperone",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aipl1"
      },
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "hgnc": "HGNC:791",
        "name": "activating transcription factor 6",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/atf6"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "hgnc": "HGNC:1393",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cacna1f"
      },
      {
        "slug": "cacna2d4",
        "symbol": "CACNA2D4",
        "hgnc": "HGNC:20202",
        "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna2d4"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "hgnc": "HGNC:14550",
        "name": "cadherin related family member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdhr1"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "cfap418",
        "symbol": "CFAP418",
        "hgnc": "HGNC:27232",
        "name": "cilia and flagella associated protein 418",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap418"
      },
      {
        "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": "cnga3",
        "symbol": "CNGA3",
        "hgnc": "HGNC:2150",
        "name": "cyclic nucleotide gated channel subunit alpha 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cnga3"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "hgnc": "HGNC:2383",
        "name": "cone-rod homeobox",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crx"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "dram2",
        "symbol": "DRAM2",
        "hgnc": "HGNC:28769",
        "name": "DNA damage regulated autophagy modulator 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dram2"
      },
      {
        "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": "gnat2",
        "symbol": "GNAT2",
        "hgnc": "HGNC:4394",
        "name": "G protein subunit alpha transducin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnat2"
      },
      {
        "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": "mt-atp6",
        "symbol": "MT-ATP6",
        "hgnc": "HGNC:7414",
        "name": "mitochondrially encoded ATP synthase membrane subunit 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-atp6"
      },
      {
        "slug": "mt-co1",
        "symbol": "MT-CO1",
        "hgnc": "HGNC:7419",
        "name": "mitochondrially encoded cytochrome c oxidase I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-co1"
      },
      {
        "slug": "mt-co3",
        "symbol": "MT-CO3",
        "hgnc": "HGNC:7422",
        "name": "mitochondrially encoded cytochrome c oxidase III",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-co3"
      },
      {
        "slug": "mt-cyb",
        "symbol": "MT-CYB",
        "hgnc": "HGNC:7427",
        "name": "mitochondrially encoded cytochrome b",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-cyb"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "hgnc": "HGNC:7455",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd1"
      },
      {
        "slug": "mt-nd2",
        "symbol": "MT-ND2",
        "hgnc": "HGNC:7456",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd2"
      },
      {
        "slug": "mt-nd4",
        "symbol": "MT-ND4",
        "hgnc": "HGNC:7459",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd4"
      },
      {
        "slug": "mt-nd4l",
        "symbol": "MT-ND4L",
        "hgnc": "HGNC:7460",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd4l"
      },
      {
        "slug": "mt-nd5",
        "symbol": "MT-ND5",
        "hgnc": "HGNC:7461",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd5"
      },
      {
        "slug": "mt-nd6",
        "symbol": "MT-ND6",
        "hgnc": "HGNC:7462",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd6"
      },
      {
        "slug": "ndufs2",
        "symbol": "NDUFS2",
        "hgnc": "HGNC:7708",
        "name": "NADH:ubiquinone oxidoreductase core subunit S2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs2"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "hgnc": "HGNC:17877",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nmnat1"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "hgnc": "HGNC:8142",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa3"
      },
      {
        "slug": "opn1lw",
        "symbol": "OPN1LW",
        "hgnc": "HGNC:9936",
        "name": "opsin 1, long wave sensitive",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opn1lw"
      },
      {
        "slug": "opn1mw",
        "symbol": "OPN1MW",
        "hgnc": "HGNC:4206",
        "name": "opsin 1, medium wave sensitive",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opn1mw"
      },
      {
        "slug": "pde6c",
        "symbol": "PDE6C",
        "hgnc": "HGNC:8787",
        "name": "phosphodiesterase 6C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6c"
      },
      {
        "slug": "pde6h",
        "symbol": "PDE6H",
        "hgnc": "HGNC:8790",
        "name": "phosphodiesterase 6H",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6h"
      },
      {
        "slug": "pitpnm3",
        "symbol": "PITPNM3",
        "hgnc": "HGNC:21043",
        "name": "PITPNM family member 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pitpnm3"
      },
      {
        "slug": "rab28",
        "symbol": "RAB28",
        "hgnc": "HGNC:9768",
        "name": "RAB28, member RAS oncogene family",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rab28"
      },
      {
        "slug": "rax2",
        "symbol": "RAX2",
        "hgnc": "HGNC:18286",
        "name": "retina and anterior neural fold homeobox 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rax2"
      },
      {
        "slug": "rdh5",
        "symbol": "RDH5",
        "hgnc": "HGNC:9940",
        "name": "retinol dehydrogenase 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rdh5"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "hgnc": "HGNC:10012",
        "name": "rhodopsin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rho"
      },
      {
        "slug": "rims1",
        "symbol": "RIMS1",
        "hgnc": "HGNC:17282",
        "name": "regulating synaptic membrane exocytosis 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rims1"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "hgnc": "HGNC:10024",
        "name": "retinaldehyde binding protein 1",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "rp2",
        "symbol": "RP2",
        "hgnc": "HGNC:10274",
        "name": "RP2 activator of ARL3 GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp2"
      },
      {
        "slug": "rpgr",
        "symbol": "RPGR",
        "hgnc": "HGNC:10295",
        "name": "retinitis pigmentosa GTPase regulator",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpgr"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "rtn4ip1",
        "symbol": "RTN4IP1",
        "hgnc": "HGNC:18647",
        "name": "reticulon 4 interacting protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtn4ip1"
      },
      {
        "slug": "sema4a",
        "symbol": "SEMA4A",
        "hgnc": "HGNC:10729",
        "name": "semaphorin 4A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema4a"
      },
      {
        "slug": "tlcd3b",
        "symbol": "TLCD3B",
        "hgnc": "HGNC:25295",
        "name": "TLC domain containing 3B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tlcd3b"
      },
      {
        "slug": "ttll5",
        "symbol": "TTLL5",
        "hgnc": "HGNC:19963",
        "name": "tubulin tyrosine ligase like 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttll5"
      },
      {
        "slug": "unc119",
        "symbol": "UNC119",
        "hgnc": "HGNC:12565",
        "name": "unc-119 lipid binding chaperone",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc119"
      },
      {
        "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": "hgsnat",
        "symbol": "HGSNAT",
        "hgnc": "HGNC:26527",
        "name": "heparan-alpha-glucosaminide N-acetyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgsnat"
      },
      {
        "slug": "ppib",
        "symbol": "PPIB",
        "hgnc": "HGNC:9255",
        "name": "peptidylprolyl isomerase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppib"
      },
      {
        "slug": "samd7",
        "symbol": "SAMD7",
        "hgnc": "HGNC:25394",
        "name": "sterile alpha motif domain containing 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samd7"
      },
      {
        "slug": "timm8a",
        "symbol": "TIMM8A",
        "hgnc": "HGNC:11817",
        "name": "translocase of inner mitochondrial membrane 8A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timm8a"
      },
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "hgnc": "HGNC:2597",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp1b1"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "hgnc": "HGNC:7610",
        "name": "myocilin",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myoc"
      },
      {
        "slug": "impg2",
        "symbol": "IMPG2",
        "hgnc": "HGNC:18362",
        "name": "interphotoreceptor matrix proteoglycan 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/impg2"
      },
      {
        "slug": "mfn2",
        "symbol": "MFN2",
        "hgnc": "HGNC:16877",
        "name": "mitofusin 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfn2"
      },
      {
        "slug": "tmem126a",
        "symbol": "TMEM126A",
        "hgnc": "HGNC:25382",
        "name": "transmembrane protein 126A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem126a"
      }
    ]
  }
}