{
  "url": "https://dantelabs.com/traits/macular-atrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "macular-atrophy",
    "id": "HP:0007401",
    "name": "Macular atrophy",
    "definition": "A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      }
    ],
    "narrower": [
      {
        "slug": "macular-scar",
        "name": "Macular scar",
        "genes": 5,
        "url": "https://dantelabs.com/traits/macular-scar"
      }
    ],
    "genes": [
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "dhx38",
        "symbol": "DHX38",
        "hgnc": "HGNC:17211",
        "name": "DEAH-box helicase 38",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhx38"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "hgnc": "HGNC:17877",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nmnat1"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "slc6a6",
        "symbol": "SLC6A6",
        "hgnc": "HGNC:11052",
        "name": "solute carrier family 6 member 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a6"
      },
      {
        "slug": "ubap1l",
        "symbol": "UBAP1L",
        "hgnc": "HGNC:40028",
        "name": "ubiquitin associated protein 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1l"
      },
      {
        "slug": "yars1",
        "symbol": "YARS1",
        "hgnc": "HGNC:12840",
        "name": "tyrosyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/yars1"
      },
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "hgnc": "HGNC:791",
        "name": "activating transcription factor 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atf6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "hgnc": "HGNC:4689",
        "name": "guanylate cyclase 2D, retinal",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gucy2d"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "hgnc": "HGNC:17146",
        "name": "ARF like GTPase 2 binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl2bp"
      },
      {
        "slug": "bbs5",
        "symbol": "BBS5",
        "hgnc": "HGNC:970",
        "name": "Bardet-Biedl syndrome 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs5"
      },
      {
        "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": "cnnm4",
        "symbol": "CNNM4",
        "hgnc": "HGNC:105",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnnm4"
      },
      {
        "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": 2,
        "url": "https://dantelabs.com/genes/guca1a"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "lztfl1",
        "symbol": "LZTFL1",
        "hgnc": "HGNC:6741",
        "name": "leucine zipper transcription factor like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lztfl1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "hgnc": "HGNC:9942",
        "name": "peripherin 2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/prph2"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "rs1",
        "symbol": "RS1",
        "hgnc": "HGNC:10457",
        "name": "retinoschisin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rs1"
      },
      {
        "slug": "samd7",
        "symbol": "SAMD7",
        "hgnc": "HGNC:25394",
        "name": "sterile alpha motif domain containing 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samd7"
      },
      {
        "slug": "unc119",
        "symbol": "UNC119",
        "hgnc": "HGNC:12565",
        "name": "unc-119 lipid binding chaperone",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc119"
      },
      {
        "slug": "c1qtnf5",
        "symbol": "C1QTNF5",
        "hgnc": "HGNC:14344",
        "name": "C1q and TNF related 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1qtnf5"
      },
      {
        "slug": "cfh",
        "symbol": "CFH",
        "hgnc": "HGNC:4883",
        "name": "complement factor H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfh"
      },
      {
        "slug": "cfi",
        "symbol": "CFI",
        "hgnc": "HGNC:5394",
        "name": "complement factor I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfi"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "kcnv2",
        "symbol": "KCNV2",
        "hgnc": "HGNC:19698",
        "name": "potassium voltage-gated channel modifier subfamily V member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnv2"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "plk4",
        "symbol": "PLK4",
        "hgnc": "HGNC:11397",
        "name": "polo like kinase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plk4"
      },
      {
        "slug": "prpf31",
        "symbol": "PRPF31",
        "hgnc": "HGNC:15446",
        "name": "pre-mRNA processing factor 31",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prpf31"
      },
      {
        "slug": "rdh5",
        "symbol": "RDH5",
        "hgnc": "HGNC:9940",
        "name": "retinol dehydrogenase 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rdh5"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "hgnc": "HGNC:10012",
        "name": "rhodopsin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rho"
      },
      {
        "slug": "rlbp1",
        "symbol": "RLBP1",
        "hgnc": "HGNC:10024",
        "name": "retinaldehyde binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rlbp1"
      },
      {
        "slug": "rp9",
        "symbol": "RP9",
        "hgnc": "HGNC:10288",
        "name": "RP9 pre-mRNA splicing factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rp9"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "aipl1",
        "symbol": "AIPL1",
        "hgnc": "HGNC:359",
        "name": "AIP like 1 HSP90 co-chaperone",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aipl1"
      },
      {
        "slug": "cfap418",
        "symbol": "CFAP418",
        "hgnc": "HGNC:27232",
        "name": "cilia and flagella associated protein 418",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap418"
      },
      {
        "slug": "dram2",
        "symbol": "DRAM2",
        "hgnc": "HGNC:28769",
        "name": "DNA damage regulated autophagy modulator 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dram2"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "gba1",
        "symbol": "GBA1",
        "hgnc": "HGNC:4177",
        "name": "glucosylceramidase beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gba1"
      },
      {
        "slug": "hk1",
        "symbol": "HK1",
        "hgnc": "HGNC:4922",
        "name": "hexokinase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hk1"
      },
      {
        "slug": "mapkapk3",
        "symbol": "MAPKAPK3",
        "hgnc": "HGNC:6888",
        "name": "MAPK activated protein kinase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapkapk3"
      },
      {
        "slug": "mertk",
        "symbol": "MERTK",
        "hgnc": "HGNC:7027",
        "name": "MER proto-oncogene, tyrosine kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mertk"
      },
      {
        "slug": "nrl",
        "symbol": "NRL",
        "hgnc": "HGNC:8002",
        "name": "neural retina leucine zipper",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrl"
      },
      {
        "slug": "rax2",
        "symbol": "RAX2",
        "hgnc": "HGNC:18286",
        "name": "retina and anterior neural fold homeobox 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rax2"
      },
      {
        "slug": "six6",
        "symbol": "SIX6",
        "hgnc": "HGNC:10892",
        "name": "SIX homeobox 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/six6"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "hgnc": "HGNC:18340",
        "name": "WD repeat domain 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr19"
      }
    ]
  }
}