{
  "abstract": "The fovea is the small depression at the neurosensory retina that underlies high-resolution central vision. It is vulnerable to disease and disruption of its architecture can lead to visual disability. Foveal morphology varies substantially across individuals but the molecular causes and functional consequences of this variation remain incompletely understood. Here, we analyse six foveal morphological parameters derived from optical coherence tomography (OCT) images of 39,521 UK Biobank participants. We find marked variation in foveal morphology and identify significant associations with sex and genetic ancestry. Genome-wide association studies identify 162 lead loci across the six foveal morphological parameters, implicating genes involved in pigmentation (including TYR , TSPAN10 and GPR143 ) and developmental patterning (including FGFR2 , CYP26C1 and CYP1A1 ). Heritability estimates range from 29 to 43%. Foveal pit volume is associated with future risk of age-related macular degeneration (AMD) (hazard ratio 1.09, p = 0.026), a finding supported by Mendelian randomisation. Given the strong correlations among foveal traits, the specificify of this association to pit volume remains unclear. These results establish foveal morphology as a highly heritable trait that is biologically linked to AMD.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 92,
  "authors": [
    {
      "name": "David J. Green"
    },
    {
      "name": "Thomas H. Julian",
      "orcid": "0000-0002-5488-5620"
    },
    {
      "name": "David Romero-Bascones",
      "orcid": "0000-0001-5394-2892"
    },
    {
      "name": "Sofia Torchia"
    },
    {
      "name": "Heer N. V. Joisher"
    },
    {
      "name": "Unai Ayala"
    },
    {
      "name": "Maitane Barrenechea",
      "orcid": "0000-0003-0149-6944"
    },
    {
      "name": "Jay E. Self",
      "orcid": "0000-0002-1030-9963"
    },
    {
      "name": "Graeme C. Black",
      "orcid": "0000-0001-8727-6592"
    },
    {
      "name": "Tomas Fitzgerald",
      "orcid": "0000-0002-2370-8496"
    },
    {
      "name": "Ewan Birney",
      "orcid": "0000-0001-8314-8497"
    },
    {
      "name": "Constance L. Cepko",
      "orcid": "0000-0002-9945-6387"
    },
    {
      "name": "Joseph Carroll",
      "orcid": "0000-0002-8640-1029"
    },
    {
      "name": "Panagiotis I. Sergouniotis",
      "orcid": "0000-0003-0986-4123"
    },
    {
      "name": "On behalf of the UK Biobank Eye and Vision Consortium"
    },
    {
      "name": "Naomi Allen"
    },
    {
      "name": "Tariq Aslam"
    },
    {
      "name": "Denize Atan"
    },
    {
      "name": "Konstantinos Balaskas"
    },
    {
      "name": "Sarah Barman"
    },
    {
      "name": "Jenny Barrett"
    },
    {
      "name": "Paul Bishop"
    },
    {
      "name": "Graeme Black"
    },
    {
      "name": "Tasanee Braithwaite"
    },
    {
      "name": "Roxana Carare"
    },
    {
      "name": "Usha Chakravarthy"
    },
    {
      "name": "Michelle Chan"
    },
    {
      "name": "Sharon Chua"
    },
    {
      "name": "Alexander Day"
    },
    {
      "name": "Parul Desai"
    },
    {
      "name": "Bal Dhillon"
    },
    {
      "name": "Andrew Dick"
    },
    {
      "name": "Alexander Doney"
    },
    {
      "name": "Cathy Egan"
    },
    {
      "name": "Sarah Ennis"
    },
    {
      "name": "Paul Foster"
    },
    {
      "name": "Marcus Fruttiger"
    },
    {
      "name": "John Gallacher"
    },
    {
      "name": "David Garway-Heath"
    },
    {
      "name": "Jane Gibson"
    },
    {
      "name": "Jeremy Guggenheim"
    },
    {
      "name": "Chris Hammond"
    },
    {
      "name": "Alison Hardcastle"
    },
    {
      "name": "Simon Harding"
    },
    {
      "name": "Ruth Hogg"
    },
    {
      "name": "Pirro Hysi"
    },
    {
      "name": "Peng Tee Khaw"
    },
    {
      "name": "Anthony Khawaja"
    },
    {
      "name": "Gerassimos Lascaratos"
    },
    {
      "name": "Adam Lewandowski"
    },
    {
      "name": "Thomas Littlejohns"
    },
    {
      "name": "Andrew Lotery"
    },
    {
      "name": "Robert Luben"
    },
    {
      "name": "Phil Luthert"
    },
    {
      "name": "Tom Macgillivray"
    },
    {
      "name": "Sarah Mackie"
    },
    {
      "name": "Savita Madhusudhan"
    },
    {
      "name": "Bernadette Mcguinness"
    },
    {
      "name": "Gareth Mckay"
    },
    {
      "name": "Martin Mckibbin"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6xeb8an12rbfk.bib",
  "cited_by": 0,
  "doi": "10.1038/s42003-026-11248-y",
  "fulltext_url": null,
  "id": "6xeb8an12rbfk",
  "issns": [
    "2399-3642"
  ],
  "landing_url": "https://www.nature.com/articles/s42003-026-11248-y",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-03",
  "publisher": "Springer Science and Business Media LLC",
  "ris": "https://research.draconitic.com/paper/6xeb8an12rbfk.ris",
  "sources": [
    {
      "first_seen": "2026-11-03T12:20:22Z",
      "native_id": "10.1038/s42003-026-11248-y",
      "source": "crossref",
      "url": "https://www.nature.com/articles/s42003-026-11248-y"
    },
    {
      "first_seen": "2026-11-03T15:20:52Z",
      "native_id": "10.1038/s42003-026-11248-y",
      "source": "feed-nature",
      "url": "https://www.nature.com/articles/s42003-026-11248-y"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "issn:2399-3642",
      "subfield": "general"
    }
  ],
  "title": "Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration",
  "title_text": "Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration",
  "type": "peer-reviewed",
  "updated_at": "2026-11-05T00:20:37Z",
  "url": "https://research.draconitic.com/paper/6xeb8an12rbfk",
  "venue": "Communications Biology",
  "versions": []
}